Chr Mutation (hg38) CAid Gene Transcript Linkouts
16g.27362736G>ACA395298779IL4Rc.1384G>A (p.Glu462Lys)
c.1339G>A (p.Glu447Lys)
c.230-1367G>A (n.230-1367G>A)
c.*1427G>A (n.*1427G>A)
c.904G>A (p.Glu302Lys)
c.493G>A (p.Glu165Lys)
c.433G>A (p.Glu145Lys)
c.1117G>A (p.Glu373Lys)
c.1087G>A (p.Glu363Lys)
c.961G>A (p.Glu321Lys)
c.*419G>A (n.*419G>A)
dbSNP gnomAD v2 gnomAD v4
16g.27362736G>CCA395298780IL4Rc.1384G>C (p.Glu462Gln)
c.1339G>C (p.Glu447Gln)
c.230-1367G>C (n.230-1367G>C)
c.*1427G>C (n.*1427G>C)
c.904G>C (p.Glu302Gln)
c.493G>C (p.Glu165Gln)
c.433G>C (p.Glu145Gln)
c.1117G>C (p.Glu373Gln)
c.1087G>C (p.Glu363Gln)
c.961G>C (p.Glu321Gln)
c.*419G>C (n.*419G>C)
16g.27362736G=CA2215169702IL4Rc.1384G= (p.Glu462=)
c.1339G= (p.Glu447=)
c.230-1367G= (n.230-1367G=)
c.*1427G= (n.*1427G=)
c.904G= (p.Glu302=)
c.493G= (p.Glu165=)
c.433G= (p.Glu145=)
c.1117G= (p.Glu373=)
c.1087G= (p.Glu363=)
c.961G= (p.Glu321=)
c.*419G= (n.*419G=)
16g.27362736G>TCA395298781IL4Rc.1384G>T (p.Glu462Ter)
c.1339G>T (p.Glu447Ter)
c.230-1367G>T (n.230-1367G>T)
c.*1427G>T (n.*1427G>T)
c.904G>T (p.Glu302Ter)
c.493G>T (p.Glu165Ter)
c.433G>T (p.Glu145Ter)
c.1117G>T (p.Glu373Ter)
c.1087G>T (p.Glu363Ter)
c.961G>T (p.Glu321Ter)
c.*419G>T (n.*419G>T)
16g.27362737A>CCA395298782IL4Rc.1385A>C (p.Glu462Ala)
c.1340A>C (p.Glu447Ala)
c.230-1366A>C (n.230-1366A>C)
c.*1428A>C (n.*1428A>C)
c.905A>C (p.Glu302Ala)
c.494A>C (p.Glu165Ala)
c.434A>C (p.Glu145Ala)
c.1118A>C (p.Glu373Ala)
c.1088A>C (p.Glu363Ala)
c.962A>C (p.Glu321Ala)
c.*420A>C (n.*420A>C)
16g.27362737A>GCA395298783IL4Rc.1385A>G (p.Glu462Gly)
c.1340A>G (p.Glu447Gly)
c.230-1366A>G (n.230-1366A>G)
c.*1428A>G (n.*1428A>G)
c.905A>G (p.Glu302Gly)
c.494A>G (p.Glu165Gly)
c.434A>G (p.Glu145Gly)
c.1118A>G (p.Glu373Gly)
c.1088A>G (p.Glu363Gly)
c.962A>G (p.Glu321Gly)
c.*420A>G (n.*420A>G)
16g.27362737A>TCA395298784IL4Rc.1385A>T (p.Glu462Val)
c.1340A>T (p.Glu447Val)
c.230-1366A>T (n.230-1366A>T)
c.*1428A>T (n.*1428A>T)
c.905A>T (p.Glu302Val)
c.494A>T (p.Glu165Val)
c.434A>T (p.Glu145Val)
c.1118A>T (p.Glu373Val)
c.1088A>T (p.Glu363Val)
c.962A>T (p.Glu321Val)
c.*420A>T (n.*420A>T)
16g.27362738G>ACA494470586IL4Rc.1386G>A (p.Glu462=)
c.1341G>A (p.Glu447=)
c.230-1365G>A (n.230-1365G>A)
c.*1429G>A (n.*1429G>A)
c.906G>A (p.Glu302=)
c.495G>A (p.Glu165=)
c.435G>A (p.Glu145=)
c.1119G>A (p.Glu373=)
c.1089G>A (p.Glu363=)
c.963G>A (p.Glu321=)
c.*421G>A (n.*421G>A)
gnomAD v4
16g.27362738G>CCA395298785IL4Rc.1386G>C (p.Glu462Asp)
c.1341G>C (p.Glu447Asp)
c.230-1365G>C (n.230-1365G>C)
c.*1429G>C (n.*1429G>C)
c.906G>C (p.Glu302Asp)
c.495G>C (p.Glu165Asp)
c.435G>C (p.Glu145Asp)
c.1119G>C (p.Glu373Asp)
c.1089G>C (p.Glu363Asp)
c.963G>C (p.Glu321Asp)
c.*421G>C (n.*421G>C)
dbSNP gnomAD v2 gnomAD v4
16g.27362738G=CA2215169708IL4Rc.1386G= (p.Glu462=)
c.1341G= (p.Glu447=)
c.230-1365G= (n.230-1365G=)
c.*1429G= (n.*1429G=)
c.906G= (p.Glu302=)
c.495G= (p.Glu165=)
c.435G= (p.Glu145=)
c.1119G= (p.Glu373=)
c.1089G= (p.Glu363=)
c.963G= (p.Glu321=)
c.*421G= (n.*421G=)
16g.27362738G>TCA395298786IL4Rc.1386G>T (p.Glu462Asp)
c.1341G>T (p.Glu447Asp)
c.230-1365G>T (n.230-1365G>T)
c.*1429G>T (n.*1429G>T)
c.906G>T (p.Glu302Asp)
c.495G>T (p.Glu165Asp)
c.435G>T (p.Glu145Asp)
c.1119G>T (p.Glu373Asp)
c.1089G>T (p.Glu363Asp)
c.963G>T (p.Glu321Asp)
c.*421G>T (n.*421G>T)
16g.27362739C>ACA395298787IL4Rc.1387C>A (p.Gln463Lys)
c.1342C>A (p.Gln448Lys)
c.230-1364C>A (n.230-1364C>A)
c.*1430C>A (n.*1430C>A)
c.907C>A (p.Gln303Lys)
c.496C>A (p.Gln166Lys)
c.436C>A (p.Gln146Lys)
c.1120C>A (p.Gln374Lys)
c.1090C>A (p.Gln364Lys)
c.964C>A (p.Gln322Lys)
c.*422C>A (n.*422C>A)
16g.27362739C=CA2215169710IL4Rc.1387C= (p.Gln463=)
c.1342C= (p.Gln448=)
c.230-1364C= (n.230-1364C=)
c.*1430C= (n.*1430C=)
c.907C= (p.Gln303=)
c.496C= (p.Gln166=)
c.436C= (p.Gln146=)
c.1120C= (p.Gln374=)
c.1090C= (p.Gln364=)
c.964C= (p.Gln322=)
c.*422C= (n.*422C=)
16g.27362739C>GCA395298788IL4Rc.1387C>G (p.Gln463Glu)
c.1342C>G (p.Gln448Glu)
c.230-1364C>G (n.230-1364C>G)
c.*1430C>G (n.*1430C>G)
c.907C>G (p.Gln303Glu)
c.496C>G (p.Gln166Glu)
c.436C>G (p.Gln146Glu)
c.1120C>G (p.Gln374Glu)
c.1090C>G (p.Gln364Glu)
c.964C>G (p.Gln322Glu)
c.*422C>G (n.*422C>G)
16g.27362739C>TCA395298789IL4Rc.1387C>T (p.Gln463Ter)
c.1342C>T (p.Gln448Ter)
c.230-1364C>T (n.230-1364C>T)
c.*1430C>T (n.*1430C>T)
c.907C>T (p.Gln303Ter)
c.496C>T (p.Gln166Ter)
c.436C>T (p.Gln146Ter)
c.1120C>T (p.Gln374Ter)
c.1090C>T (p.Gln364Ter)
c.964C>T (p.Gln322Ter)
c.*422C>T (n.*422C>T)
dbSNP gnomAD v2
16g.27362740A=CA2215169713IL4Rc.1388A= (p.Gln463=)
c.1343A= (p.Gln448=)
c.230-1363A= (n.230-1363A=)
c.*1431A= (n.*1431A=)
c.908A= (p.Gln303=)
c.497A= (p.Gln166=)
c.437A= (p.Gln146=)
c.1121A= (p.Gln374=)
c.1091A= (p.Gln364=)
c.965A= (p.Gln322=)
c.*423A= (n.*423A=)
16g.27362740A>CCA395298791IL4Rc.1388A>C (p.Gln463Pro)
c.1343A>C (p.Gln448Pro)
c.230-1363A>C (n.230-1363A>C)
c.*1431A>C (n.*1431A>C)
c.908A>C (p.Gln303Pro)
c.497A>C (p.Gln166Pro)
c.437A>C (p.Gln146Pro)
c.1121A>C (p.Gln374Pro)
c.1091A>C (p.Gln364Pro)
c.965A>C (p.Gln322Pro)
c.*423A>C (n.*423A>C)
16g.27362740A>GCA395298792IL4Rc.1388A>G (p.Gln463Arg)
c.1343A>G (p.Gln448Arg)
c.230-1363A>G (n.230-1363A>G)
c.*1431A>G (n.*1431A>G)
c.908A>G (p.Gln303Arg)
c.497A>G (p.Gln166Arg)
c.437A>G (p.Gln146Arg)
c.1121A>G (p.Gln374Arg)
c.1091A>G (p.Gln364Arg)
c.965A>G (p.Gln322Arg)
c.*423A>G (n.*423A>G)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
16g.27362740A>TCA395298790IL4Rc.1388A>T (p.Gln463Leu)
c.1343A>T (p.Gln448Leu)
c.230-1363A>T (n.230-1363A>T)
c.*1431A>T (n.*1431A>T)
c.908A>T (p.Gln303Leu)
c.497A>T (p.Gln166Leu)
c.437A>T (p.Gln146Leu)
c.1121A>T (p.Gln374Leu)
c.1091A>T (p.Gln364Leu)
c.965A>T (p.Gln322Leu)
c.*423A>T (n.*423A>T)
16g.27362741G>ACA494470590IL4Rc.1389G>A (p.Gln463=)
c.1344G>A (p.Gln448=)
c.230-1362G>A (n.230-1362G>A)
c.*1432G>A (n.*1432G>A)
c.909G>A (p.Gln303=)
c.498G>A (p.Gln166=)
c.438G>A (p.Gln146=)
c.1122G>A (p.Gln374=)
c.1092G>A (p.Gln364=)
c.966G>A (p.Gln322=)
c.*424G>A (n.*424G>A)
gnomAD v4
16g.27362741G>CCA395298794IL4Rc.1389G>C (p.Gln463His)
c.1344G>C (p.Gln448His)
c.230-1362G>C (n.230-1362G>C)
c.*1432G>C (n.*1432G>C)
c.909G>C (p.Gln303His)
c.498G>C (p.Gln166His)
c.438G>C (p.Gln146His)
c.1122G>C (p.Gln374His)
c.1092G>C (p.Gln364His)
c.966G>C (p.Gln322His)
c.*424G>C (n.*424G>C)
16g.27362741G>TCA395298793IL4Rc.1389G>T (p.Gln463His)
c.1344G>T (p.Gln448His)
c.230-1362G>T (n.230-1362G>T)
c.*1432G>T (n.*1432G>T)
c.909G>T (p.Gln303His)
c.498G>T (p.Gln166His)
c.438G>T (p.Gln146His)
c.1122G>T (p.Gln374His)
c.1092G>T (p.Gln364His)
c.966G>T (p.Gln322His)
c.*424G>T (n.*424G>T)
16g.27362742C>ACA395298796IL4Rc.1390C>A (p.Pro464Thr)
c.1345C>A (p.Pro449Thr)
c.230-1361C>A (n.230-1361C>A)
c.*1433C>A (n.*1433C>A)
c.910C>A (p.Pro304Thr)
c.499C>A (p.Pro167Thr)
c.439C>A (p.Pro147Thr)
c.1123C>A (p.Pro375Thr)
c.1093C>A (p.Pro365Thr)
c.967C>A (p.Pro323Thr)
c.*425C>A (n.*425C>A)
16g.27362742C>GCA395298795IL4Rc.1390C>G (p.Pro464Ala)
c.1345C>G (p.Pro449Ala)
c.230-1361C>G (n.230-1361C>G)
c.*1433C>G (n.*1433C>G)
c.910C>G (p.Pro304Ala)
c.499C>G (p.Pro167Ala)
c.439C>G (p.Pro147Ala)
c.1123C>G (p.Pro375Ala)
c.1093C>G (p.Pro365Ala)
c.967C>G (p.Pro323Ala)
c.*425C>G (n.*425C>G)
16g.27362742C>TCA395298797IL4Rc.1390C>T (p.Pro464Ser)
c.1345C>T (p.Pro449Ser)
c.230-1361C>T (n.230-1361C>T)
c.*1433C>T (n.*1433C>T)
c.910C>T (p.Pro304Ser)
c.499C>T (p.Pro167Ser)
c.439C>T (p.Pro147Ser)
c.1123C>T (p.Pro375Ser)
c.1093C>T (p.Pro365Ser)
c.967C>T (p.Pro323Ser)
c.*425C>T (n.*425C>T)
gnomAD v4
16g.27362743C>ACA395298798IL4Rc.1391C>A (p.Pro464His)
c.1346C>A (p.Pro449His)
c.230-1360C>A (n.230-1360C>A)
c.*1434C>A (n.*1434C>A)
c.911C>A (p.Pro304His)
c.500C>A (p.Pro167His)
c.440C>A (p.Pro147His)
c.1124C>A (p.Pro375His)
c.1094C>A (p.Pro365His)
c.968C>A (p.Pro323His)
c.*426C>A (n.*426C>A)
COSMIC
16g.27362743C>GCA395298800IL4Rc.1391C>G (p.Pro464Arg)
c.1346C>G (p.Pro449Arg)
c.230-1360C>G (n.230-1360C>G)
c.*1434C>G (n.*1434C>G)
c.911C>G (p.Pro304Arg)
c.500C>G (p.Pro167Arg)
c.440C>G (p.Pro147Arg)
c.1124C>G (p.Pro375Arg)
c.1094C>G (p.Pro365Arg)
c.968C>G (p.Pro323Arg)
c.*426C>G (n.*426C>G)
16g.27362743C>TCA395298799IL4Rc.1391C>T (p.Pro464Leu)
c.1346C>T (p.Pro449Leu)
c.230-1360C>T (n.230-1360C>T)
c.*1434C>T (n.*1434C>T)
c.911C>T (p.Pro304Leu)
c.500C>T (p.Pro167Leu)
c.440C>T (p.Pro147Leu)
c.1124C>T (p.Pro375Leu)
c.1094C>T (p.Pro365Leu)
c.968C>T (p.Pro323Leu)
c.*426C>T (n.*426C>T)
gnomAD v4
16g.27362744T>ACA494470594IL4Rc.1392T>A (p.Pro464=)
c.1347T>A (p.Pro449=)
c.230-1359T>A (n.230-1359T>A)
c.*1435T>A (n.*1435T>A)
c.912T>A (p.Pro304=)
c.501T>A (p.Pro167=)
c.441T>A (p.Pro147=)
c.1125T>A (p.Pro375=)
c.1095T>A (p.Pro365=)
c.969T>A (p.Pro323=)
c.*427T>A (n.*427T>A)
16g.27362744T>CCA494470595IL4Rc.1392T>C (p.Pro464=)
c.1347T>C (p.Pro449=)
c.230-1359T>C (n.230-1359T>C)
c.*1435T>C (n.*1435T>C)
c.912T>C (p.Pro304=)
c.501T>C (p.Pro167=)
c.441T>C (p.Pro147=)
c.1125T>C (p.Pro375=)
c.1095T>C (p.Pro365=)
c.969T>C (p.Pro323=)
c.*427T>C (n.*427T>C)
16g.27362744T>GCA494470596IL4Rc.1392T>G (p.Pro464=)
c.1347T>G (p.Pro449=)
c.230-1359T>G (n.230-1359T>G)
c.*1435T>G (n.*1435T>G)
c.912T>G (p.Pro304=)
c.501T>G (p.Pro167=)
c.441T>G (p.Pro147=)
c.1125T>G (p.Pro375=)
c.1095T>G (p.Pro365=)
c.969T>G (p.Pro323=)
c.*427T>G (n.*427T>G)
16g.27362745C>ACA395298801IL4Rc.1393C>A (p.Leu465Ile)
c.1348C>A (p.Leu450Ile)
c.230-1358C>A (n.230-1358C>A)
c.*1436C>A (n.*1436C>A)
c.913C>A (p.Leu305Ile)
c.502C>A (p.Leu168Ile)
c.442C>A (p.Leu148Ile)
c.1126C>A (p.Leu376Ile)
c.1096C>A (p.Leu366Ile)
c.970C>A (p.Leu324Ile)
c.*428C>A (n.*428C>A)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
16g.27362745C=CA2215169714IL4Rc.1393C= (p.Leu465=)
c.1348C= (p.Leu450=)
c.230-1358C= (n.230-1358C=)
c.*1436C= (n.*1436C=)
c.913C= (p.Leu305=)
c.502C= (p.Leu168=)
c.442C= (p.Leu148=)
c.1126C= (p.Leu376=)
c.1096C= (p.Leu366=)
c.970C= (p.Leu324=)
c.*428C= (n.*428C=)
16g.27362745C>GCA395298802IL4Rc.1393C>G (p.Leu465Val)
c.1348C>G (p.Leu450Val)
c.230-1358C>G (n.230-1358C>G)
c.*1436C>G (n.*1436C>G)
c.913C>G (p.Leu305Val)
c.502C>G (p.Leu168Val)
c.442C>G (p.Leu148Val)
c.1126C>G (p.Leu376Val)
c.1096C>G (p.Leu366Val)
c.970C>G (p.Leu324Val)
c.*428C>G (n.*428C>G)
gnomAD v4
16g.27362745C>TCA395298803IL4Rc.1393C>T (p.Leu465Phe)
c.1348C>T (p.Leu450Phe)
c.230-1358C>T (n.230-1358C>T)
c.*1436C>T (n.*1436C>T)
c.913C>T (p.Leu305Phe)
c.502C>T (p.Leu168Phe)
c.442C>T (p.Leu148Phe)
c.1126C>T (p.Leu376Phe)
c.1096C>T (p.Leu366Phe)
c.970C>T (p.Leu324Phe)
c.*428C>T (n.*428C>T)
dbSNP gnomAD v4
16g.27362746T>ACA395298804IL4Rc.1394T>A (p.Leu465His)
c.1349T>A (p.Leu450His)
c.230-1357T>A (n.230-1357T>A)
c.*1437T>A (n.*1437T>A)
c.914T>A (p.Leu305His)
c.503T>A (p.Leu168His)
c.443T>A (p.Leu148His)
c.1127T>A (p.Leu376His)
c.1097T>A (p.Leu366His)
c.971T>A (p.Leu324His)
c.*429T>A (n.*429T>A)
16g.27362746T>CCA395298805IL4Rc.1394T>C (p.Leu465Pro)
c.1349T>C (p.Leu450Pro)
c.230-1357T>C (n.230-1357T>C)
c.*1437T>C (n.*1437T>C)
c.914T>C (p.Leu305Pro)
c.503T>C (p.Leu168Pro)
c.443T>C (p.Leu148Pro)
c.1127T>C (p.Leu376Pro)
c.1097T>C (p.Leu366Pro)
c.971T>C (p.Leu324Pro)
c.*429T>C (n.*429T>C)
16g.27362746T>GCA395298806IL4Rc.1394T>G (p.Leu465Arg)
c.1349T>G (p.Leu450Arg)
c.230-1357T>G (n.230-1357T>G)
c.*1437T>G (n.*1437T>G)
c.914T>G (p.Leu305Arg)
c.503T>G (p.Leu168Arg)
c.443T>G (p.Leu148Arg)
c.1127T>G (p.Leu376Arg)
c.1097T>G (p.Leu366Arg)
c.971T>G (p.Leu324Arg)
c.*429T>G (n.*429T>G)
16g.27362747C>ACA494470602IL4Rc.1395C>A (p.Leu465=)
c.1350C>A (p.Leu450=)
c.230-1356C>A (n.230-1356C>A)
c.*1438C>A (n.*1438C>A)
c.915C>A (p.Leu305=)
c.504C>A (p.Leu168=)
c.444C>A (p.Leu148=)
c.1128C>A (p.Leu376=)
c.1098C>A (p.Leu366=)
c.972C>A (p.Leu324=)
c.*430C>A (n.*430C>A)
16g.27362747C>GCA494470601IL4Rc.1395C>G (p.Leu465=)
c.1350C>G (p.Leu450=)
c.230-1356C>G (n.230-1356C>G)
c.*1438C>G (n.*1438C>G)
c.915C>G (p.Leu305=)
c.504C>G (p.Leu168=)
c.444C>G (p.Leu148=)
c.1128C>G (p.Leu376=)
c.1098C>G (p.Leu366=)
c.972C>G (p.Leu324=)
c.*430C>G (n.*430C>G)
gnomAD v4
16g.27362747C>TCA494470600IL4Rc.1395C>T (p.Leu465=)
c.1350C>T (p.Leu450=)
c.230-1356C>T (n.230-1356C>T)
c.*1438C>T (n.*1438C>T)
c.915C>T (p.Leu305=)
c.504C>T (p.Leu168=)
c.444C>T (p.Leu148=)
c.1128C>T (p.Leu376=)
c.1098C>T (p.Leu366=)
c.972C>T (p.Leu324=)
c.*430C>T (n.*430C>T)
16g.27362748C>ACA395298807IL4Rc.1396C>A (p.His466Asn)
c.1351C>A (p.His451Asn)
c.230-1355C>A (n.230-1355C>A)
c.*1439C>A (n.*1439C>A)
c.916C>A (p.His306Asn)
c.505C>A (p.His169Asn)
c.445C>A (p.His149Asn)
c.1129C>A (p.His377Asn)
c.1099C>A (p.His367Asn)
c.973C>A (p.His325Asn)
c.*431C>A (n.*431C>A)
16g.27362748C=CA2215169721IL4Rc.1396C= (p.His466=)
c.1351C= (p.His451=)
c.230-1355C= (n.230-1355C=)
c.*1439C= (n.*1439C=)
c.916C= (p.His306=)
c.505C= (p.His169=)
c.445C= (p.His149=)
c.1129C= (p.His377=)
c.1099C= (p.His367=)
c.973C= (p.His325=)
c.*431C= (n.*431C=)
16g.27362748C>GCA395298808IL4Rc.1396C>G (p.His466Asp)
c.1351C>G (p.His451Asp)
c.230-1355C>G (n.230-1355C>G)
c.*1439C>G (n.*1439C>G)
c.916C>G (p.His306Asp)
c.505C>G (p.His169Asp)
c.445C>G (p.His149Asp)
c.1129C>G (p.His377Asp)
c.1099C>G (p.His367Asp)
c.973C>G (p.His325Asp)
c.*431C>G (n.*431C>G)
16g.27362748C>TCA7974553IL4Rc.1396C>T (p.His466Tyr)
c.1351C>T (p.His451Tyr)
c.230-1355C>T (n.230-1355C>T)
c.*1439C>T (n.*1439C>T)
c.916C>T (p.His306Tyr)
c.505C>T (p.His169Tyr)
c.445C>T (p.His149Tyr)
c.1129C>T (p.His377Tyr)
c.1099C>T (p.His367Tyr)
c.973C>T (p.His325Tyr)
c.*431C>T (n.*431C>T)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.27362749A>CCA395298809IL4Rc.1397A>C (p.His466Pro)
c.1352A>C (p.His451Pro)
c.230-1354A>C (n.230-1354A>C)
c.*1440A>C (n.*1440A>C)
c.917A>C (p.His306Pro)
c.506A>C (p.His169Pro)
c.446A>C (p.His149Pro)
c.1130A>C (p.His377Pro)
c.1100A>C (p.His367Pro)
c.974A>C (p.His325Pro)
c.*432A>C (n.*432A>C)
16g.27362749A>GCA395298810IL4Rc.1397A>G (p.His466Arg)
c.1352A>G (p.His451Arg)
c.230-1354A>G (n.230-1354A>G)
c.*1440A>G (n.*1440A>G)
c.917A>G (p.His306Arg)
c.506A>G (p.His169Arg)
c.446A>G (p.His149Arg)
c.1130A>G (p.His377Arg)
c.1100A>G (p.His367Arg)
c.974A>G (p.His325Arg)
c.*432A>G (n.*432A>G)
16g.27362749A>TCA395298811IL4Rc.1397A>T (p.His466Leu)
c.1352A>T (p.His451Leu)
c.230-1354A>T (n.230-1354A>T)
c.*1440A>T (n.*1440A>T)
c.917A>T (p.His306Leu)
c.506A>T (p.His169Leu)
c.446A>T (p.His149Leu)
c.1130A>T (p.His377Leu)
c.1100A>T (p.His367Leu)
c.974A>T (p.His325Leu)
c.*432A>T (n.*432A>T)
16g.27362750C>ACA395298812IL4Rc.1398C>A (p.His466Gln)
c.1353C>A (p.His451Gln)
c.230-1353C>A (n.230-1353C>A)
c.*1441C>A (n.*1441C>A)
c.918C>A (p.His306Gln)
c.507C>A (p.His169Gln)
c.447C>A (p.His149Gln)
c.1131C>A (p.His377Gln)
c.1101C>A (p.His367Gln)
c.975C>A (p.His325Gln)
c.*433C>A (n.*433C>A)
16g.27362750C=CA2215169722IL4Rc.1398C= (p.His466=)
c.1353C= (p.His451=)
c.230-1353C= (n.230-1353C=)
c.*1441C= (n.*1441C=)
c.918C= (p.His306=)
c.507C= (p.His169=)
c.447C= (p.His149=)
c.1131C= (p.His377=)
c.1101C= (p.His367=)
c.975C= (p.His325=)
c.*433C= (n.*433C=)
16g.27362750C>GCA395298813IL4Rc.1398C>G (p.His466Gln)
c.1353C>G (p.His451Gln)
c.230-1353C>G (n.230-1353C>G)
c.*1441C>G (n.*1441C>G)
c.918C>G (p.His306Gln)
c.507C>G (p.His169Gln)
c.447C>G (p.His149Gln)
c.1131C>G (p.His377Gln)
c.1101C>G (p.His367Gln)
c.975C>G (p.His325Gln)
c.*433C>G (n.*433C>G)
16g.27362750C>TCA494470604IL4Rc.1398C>T (p.His466=)
c.1353C>T (p.His451=)
c.230-1353C>T (n.230-1353C>T)
c.*1441C>T (n.*1441C>T)
c.918C>T (p.His306=)
c.507C>T (p.His169=)
c.447C>T (p.His149=)
c.1131C>T (p.His377=)
c.1101C>T (p.His367=)
c.975C>T (p.His325=)
c.*433C>T (n.*433C>T)
dbSNP
16g.27362751C>ACA395298814IL4Rc.1399C>A (p.Leu467Met)
c.1354C>A (p.Leu452Met)
c.230-1352C>A (n.230-1352C>A)
c.*1442C>A (n.*1442C>A)
c.919C>A (p.Leu307Met)
c.508C>A (p.Leu170Met)
c.448C>A (p.Leu150Met)
c.1132C>A (p.Leu378Met)
c.1102C>A (p.Leu368Met)
c.976C>A (p.Leu326Met)
c.*434C>A (n.*434C>A)
16g.27362751C=CA2215169723IL4Rc.1399C= (p.Leu467=)
c.1354C= (p.Leu452=)
c.230-1352C= (n.230-1352C=)
c.*1442C= (n.*1442C=)
c.919C= (p.Leu307=)
c.508C= (p.Leu170=)
c.448C= (p.Leu150=)
c.1132C= (p.Leu378=)
c.1102C= (p.Leu368=)
c.976C= (p.Leu326=)
c.*434C= (n.*434C=)
16g.27362751C>GCA395298815IL4Rc.1399C>G (p.Leu467Val)
c.1354C>G (p.Leu452Val)
c.230-1352C>G (n.230-1352C>G)
c.*1442C>G (n.*1442C>G)
c.919C>G (p.Leu307Val)
c.508C>G (p.Leu170Val)
c.448C>G (p.Leu150Val)
c.1132C>G (p.Leu378Val)
c.1102C>G (p.Leu368Val)
c.976C>G (p.Leu326Val)
c.*434C>G (n.*434C>G)
16g.27362751C>TCA494470606IL4Rc.1399C>T (p.Leu467=)
c.1354C>T (p.Leu452=)
c.230-1352C>T (n.230-1352C>T)
c.*1442C>T (n.*1442C>T)
c.919C>T (p.Leu307=)
c.508C>T (p.Leu170=)
c.448C>T (p.Leu150=)
c.1132C>T (p.Leu378=)
c.1102C>T (p.Leu368=)
c.976C>T (p.Leu326=)
c.*434C>T (n.*434C>T)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
16g.27362752T>ACA395298816IL4Rc.1400T>A (p.Leu467Gln)
c.1355T>A (p.Leu452Gln)
c.230-1351T>A (n.230-1351T>A)
c.*1443T>A (n.*1443T>A)
c.920T>A (p.Leu307Gln)
c.509T>A (p.Leu170Gln)
c.449T>A (p.Leu150Gln)
c.1133T>A (p.Leu378Gln)
c.1103T>A (p.Leu368Gln)
c.977T>A (p.Leu326Gln)
c.*435T>A (n.*435T>A)
16g.27362752T>CCA395298817IL4Rc.1400T>C (p.Leu467Pro)
c.1355T>C (p.Leu452Pro)
c.230-1351T>C (n.230-1351T>C)
c.*1443T>C (n.*1443T>C)
c.920T>C (p.Leu307Pro)
c.509T>C (p.Leu170Pro)
c.449T>C (p.Leu150Pro)
c.1133T>C (p.Leu378Pro)
c.1103T>C (p.Leu368Pro)
c.977T>C (p.Leu326Pro)
c.*435T>C (n.*435T>C)
16g.27362752T>GCA395298818IL4Rc.1400T>G (p.Leu467Arg)
c.1355T>G (p.Leu452Arg)
c.230-1351T>G (n.230-1351T>G)
c.*1443T>G (n.*1443T>G)
c.920T>G (p.Leu307Arg)
c.509T>G (p.Leu170Arg)
c.449T>G (p.Leu150Arg)
c.1133T>G (p.Leu378Arg)
c.1103T>G (p.Leu368Arg)
c.977T>G (p.Leu326Arg)
c.*435T>G (n.*435T>G)
16g.27362753G>ACA494470607IL4Rc.1401G>A (p.Leu467=)
c.1356G>A (p.Leu452=)
c.230-1350G>A (n.230-1350G>A)
c.*1444G>A (n.*1444G>A)
c.921G>A (p.Leu307=)
c.510G>A (p.Leu170=)
c.450G>A (p.Leu150=)
c.1134G>A (p.Leu378=)
c.1104G>A (p.Leu368=)
c.978G>A (p.Leu326=)
c.*436G>A (n.*436G>A)
gnomAD v4
16g.27362753G>CCA494470609IL4Rc.1401G>C (p.Leu467=)
c.1356G>C (p.Leu452=)
c.230-1350G>C (n.230-1350G>C)
c.*1444G>C (n.*1444G>C)
c.921G>C (p.Leu307=)
c.510G>C (p.Leu170=)
c.450G>C (p.Leu150=)
c.1134G>C (p.Leu378=)
c.1104G>C (p.Leu368=)
c.978G>C (p.Leu326=)
c.*436G>C (n.*436G>C)
16g.27362753G>TCA494470608IL4Rc.1401G>T (p.Leu467=)
c.1356G>T (p.Leu452=)
c.230-1350G>T (n.230-1350G>T)
c.*1444G>T (n.*1444G>T)
c.921G>T (p.Leu307=)
c.510G>T (p.Leu170=)
c.450G>T (p.Leu150=)
c.1134G>T (p.Leu378=)
c.1104G>T (p.Leu368=)
c.978G>T (p.Leu326=)
c.*436G>T (n.*436G>T)
16g.27362754G>ACA395298819IL4Rc.1402G>A (p.Glu468Lys)
c.1357G>A (p.Glu453Lys)
c.230-1349G>A (n.230-1349G>A)
c.*1445G>A (n.*1445G>A)
c.922G>A (p.Glu308Lys)
c.511G>A (p.Glu171Lys)
c.451G>A (p.Glu151Lys)
c.1135G>A (p.Glu379Lys)
c.1105G>A (p.Glu369Lys)
c.979G>A (p.Glu327Lys)
c.*437G>A (n.*437G>A)
16g.27362754G>CCA395298820IL4Rc.1402G>C (p.Glu468Gln)
c.1357G>C (p.Glu453Gln)
c.230-1349G>C (n.230-1349G>C)
c.*1445G>C (n.*1445G>C)
c.922G>C (p.Glu308Gln)
c.511G>C (p.Glu171Gln)
c.451G>C (p.Glu151Gln)
c.1135G>C (p.Glu379Gln)
c.1105G>C (p.Glu369Gln)
c.979G>C (p.Glu327Gln)
c.*437G>C (n.*437G>C)
16g.27362754G>TCA395298821IL4Rc.1402G>T (p.Glu468Ter)
c.1357G>T (p.Glu453Ter)
c.230-1349G>T (n.230-1349G>T)
c.*1445G>T (n.*1445G>T)
c.922G>T (p.Glu308Ter)
c.511G>T (p.Glu171Ter)
c.451G>T (p.Glu151Ter)
c.1135G>T (p.Glu379Ter)
c.1105G>T (p.Glu369Ter)
c.979G>T (p.Glu327Ter)
c.*437G>T (n.*437G>T)
16g.27362755A>CCA395298822IL4Rc.1403A>C (p.Glu468Ala)
c.1358A>C (p.Glu453Ala)
c.230-1348A>C (n.230-1348A>C)
c.*1446A>C (n.*1446A>C)
c.923A>C (p.Glu308Ala)
c.512A>C (p.Glu171Ala)
c.452A>C (p.Glu151Ala)
c.1136A>C (p.Glu379Ala)
c.1106A>C (p.Glu369Ala)
c.980A>C (p.Glu327Ala)
c.*438A>C (n.*438A>C)
16g.27362755A>GCA395298823IL4Rc.1403A>G (p.Glu468Gly)
c.1358A>G (p.Glu453Gly)
c.230-1348A>G (n.230-1348A>G)
c.*1446A>G (n.*1446A>G)
c.923A>G (p.Glu308Gly)
c.512A>G (p.Glu171Gly)
c.452A>G (p.Glu151Gly)
c.1136A>G (p.Glu379Gly)
c.1106A>G (p.Glu369Gly)
c.980A>G (p.Glu327Gly)
c.*438A>G (n.*438A>G)
16g.27362755A>TCA395298824IL4Rc.1403A>T (p.Glu468Val)
c.1358A>T (p.Glu453Val)
c.230-1348A>T (n.230-1348A>T)
c.*1446A>T (n.*1446A>T)
c.923A>T (p.Glu308Val)
c.512A>T (p.Glu171Val)
c.452A>T (p.Glu151Val)
c.1136A>T (p.Glu379Val)
c.1106A>T (p.Glu369Val)
c.980A>T (p.Glu327Val)
c.*438A>T (n.*438A>T)
16g.27362756G>ACA7974554IL4Rc.1404G>A (p.Glu468=)
c.1359G>A (p.Glu453=)
c.230-1347G>A (n.230-1347G>A)
c.*1447G>A (n.*1447G>A)
c.924G>A (p.Glu308=)
c.513G>A (p.Glu171=)
c.453G>A (p.Glu151=)
c.1137G>A (p.Glu379=)
c.1107G>A (p.Glu369=)
c.981G>A (p.Glu327=)
c.*439G>A (n.*439G>A)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.27362756G>CCA395298825IL4Rc.1404G>C (p.Glu468Asp)
c.1359G>C (p.Glu453Asp)
c.230-1347G>C (n.230-1347G>C)
c.*1447G>C (n.*1447G>C)
c.924G>C (p.Glu308Asp)
c.513G>C (p.Glu171Asp)
c.453G>C (p.Glu151Asp)
c.1137G>C (p.Glu379Asp)
c.1107G>C (p.Glu369Asp)
c.981G>C (p.Glu327Asp)
c.*439G>C (n.*439G>C)
16g.27362756G=CA2215169729IL4Rc.1404G= (p.Glu468=)
c.1359G= (p.Glu453=)
c.230-1347G= (n.230-1347G=)
c.*1447G= (n.*1447G=)
c.924G= (p.Glu308=)
c.513G= (p.Glu171=)
c.453G= (p.Glu151=)
c.1137G= (p.Glu379=)
c.1107G= (p.Glu369=)
c.981G= (p.Glu327=)
c.*439G= (n.*439G=)
16g.27362756G>TCA395298826IL4Rc.1404G>T (p.Glu468Asp)
c.1359G>T (p.Glu453Asp)
c.230-1347G>T (n.230-1347G>T)
c.*1447G>T (n.*1447G>T)
c.924G>T (p.Glu308Asp)
c.513G>T (p.Glu171Asp)
c.453G>T (p.Glu151Asp)
c.1137G>T (p.Glu379Asp)
c.1107G>T (p.Glu369Asp)
c.981G>T (p.Glu327Asp)
c.*439G>T (n.*439G>T)
16g.27362757C>ACA395298827IL4Rc.1405C>A (p.Pro469Thr)
c.1360C>A (p.Pro454Thr)
c.230-1346C>A (n.230-1346C>A)
c.*1448C>A (n.*1448C>A)
c.925C>A (p.Pro309Thr)
c.514C>A (p.Pro172Thr)
c.454C>A (p.Pro152Thr)
c.1138C>A (p.Pro380Thr)
c.1108C>A (p.Pro370Thr)
c.982C>A (p.Pro328Thr)
c.*440C>A (n.*440C>A)
16g.27362757C>GCA395298829IL4Rc.1405C>G (p.Pro469Ala)
c.1360C>G (p.Pro454Ala)
c.230-1346C>G (n.230-1346C>G)
c.*1448C>G (n.*1448C>G)
c.925C>G (p.Pro309Ala)
c.514C>G (p.Pro172Ala)
c.454C>G (p.Pro152Ala)
c.1138C>G (p.Pro380Ala)
c.1108C>G (p.Pro370Ala)
c.982C>G (p.Pro328Ala)
c.*440C>G (n.*440C>G)
16g.27362757C>TCA395298828IL4Rc.1405C>T (p.Pro469Ser)
c.1360C>T (p.Pro454Ser)
c.230-1346C>T (n.230-1346C>T)
c.*1448C>T (n.*1448C>T)
c.925C>T (p.Pro309Ser)
c.514C>T (p.Pro172Ser)
c.454C>T (p.Pro152Ser)
c.1138C>T (p.Pro380Ser)
c.1108C>T (p.Pro370Ser)
c.982C>T (p.Pro328Ser)
c.*440C>T (n.*440C>T)
16g.27362758C>ACA395298830IL4Rc.1406C>A (p.Pro469Gln)
c.1361C>A (p.Pro454Gln)
c.230-1345C>A (n.230-1345C>A)
c.*1449C>A (n.*1449C>A)
c.926C>A (p.Pro309Gln)
c.515C>A (p.Pro172Gln)
c.455C>A (p.Pro152Gln)
c.1139C>A (p.Pro380Gln)
c.1109C>A (p.Pro370Gln)
c.983C>A (p.Pro328Gln)
c.*441C>A (n.*441C>A)
16g.27362758C>GCA395298831IL4Rc.1406C>G (p.Pro469Arg)
c.1361C>G (p.Pro454Arg)
c.230-1345C>G (n.230-1345C>G)
c.*1449C>G (n.*1449C>G)
c.926C>G (p.Pro309Arg)
c.515C>G (p.Pro172Arg)
c.455C>G (p.Pro152Arg)
c.1139C>G (p.Pro380Arg)
c.1109C>G (p.Pro370Arg)
c.983C>G (p.Pro328Arg)
c.*441C>G (n.*441C>G)
16g.27362758C>TCA395298832IL4Rc.1406C>T (p.Pro469Leu)
c.1361C>T (p.Pro454Leu)
c.230-1345C>T (n.230-1345C>T)
c.*1449C>T (n.*1449C>T)
c.926C>T (p.Pro309Leu)
c.515C>T (p.Pro172Leu)
c.455C>T (p.Pro152Leu)
c.1139C>T (p.Pro380Leu)
c.1109C>T (p.Pro370Leu)
c.983C>T (p.Pro328Leu)
c.*441C>T (n.*441C>T)
16g.27362759A>CCA494470613IL4Rc.1407A>C (p.Pro469=)
c.1362A>C (p.Pro454=)
c.230-1344A>C (n.230-1344A>C)
c.*1450A>C (n.*1450A>C)
c.927A>C (p.Pro309=)
c.516A>C (p.Pro172=)
c.456A>C (p.Pro152=)
c.1140A>C (p.Pro380=)
c.1110A>C (p.Pro370=)
c.984A>C (p.Pro328=)
c.*442A>C (n.*442A>C)
16g.27362759A>GCA494470612IL4Rc.1407A>G (p.Pro469=)
c.1362A>G (p.Pro454=)
c.230-1344A>G (n.230-1344A>G)
c.*1450A>G (n.*1450A>G)
c.927A>G (p.Pro309=)
c.516A>G (p.Pro172=)
c.456A>G (p.Pro152=)
c.1140A>G (p.Pro380=)
c.1110A>G (p.Pro370=)
c.984A>G (p.Pro328=)
c.*442A>G (n.*442A>G)
16g.27362759A>TCA494470614IL4Rc.1407A>T (p.Pro469=)
c.1362A>T (p.Pro454=)
c.230-1344A>T (n.230-1344A>T)
c.*1450A>T (n.*1450A>T)
c.927A>T (p.Pro309=)
c.516A>T (p.Pro172=)
c.456A>T (p.Pro152=)
c.1140A>T (p.Pro380=)
c.1110A>T (p.Pro370=)
c.984A>T (p.Pro328=)
c.*442A>T (n.*442A>T)
16g.27362760A>CCA395298833IL4Rc.1408A>C (p.Ser470Arg)
c.1363A>C (p.Ser455Arg)
c.230-1343A>C (n.230-1343A>C)
c.*1451A>C (n.*1451A>C)
c.928A>C (p.Ser310Arg)
c.517A>C (p.Ser173Arg)
c.457A>C (p.Ser153Arg)
c.1141A>C (p.Ser381Arg)
c.1111A>C (p.Ser371Arg)
c.985A>C (p.Ser329Arg)
c.*443A>C (n.*443A>C)
16g.27362760A>GCA395298834IL4Rc.1408A>G (p.Ser470Gly)
c.1363A>G (p.Ser455Gly)
c.230-1343A>G (n.230-1343A>G)
c.*1451A>G (n.*1451A>G)
c.928A>G (p.Ser310Gly)
c.517A>G (p.Ser173Gly)
c.457A>G (p.Ser153Gly)
c.1141A>G (p.Ser381Gly)
c.1111A>G (p.Ser371Gly)
c.985A>G (p.Ser329Gly)
c.*443A>G (n.*443A>G)
16g.27362760A>TCA395298835IL4Rc.1408A>T (p.Ser470Cys)
c.1363A>T (p.Ser455Cys)
c.230-1343A>T (n.230-1343A>T)
c.*1451A>T (n.*1451A>T)
c.928A>T (p.Ser310Cys)
c.517A>T (p.Ser173Cys)
c.457A>T (p.Ser153Cys)
c.1141A>T (p.Ser381Cys)
c.1111A>T (p.Ser371Cys)
c.985A>T (p.Ser329Cys)
c.*443A>T (n.*443A>T)
16g.27362761G>ACA395298836IL4Rc.1409G>A (p.Ser470Asn)
c.1364G>A (p.Ser455Asn)
c.230-1342G>A (n.230-1342G>A)
c.*1452G>A (n.*1452G>A)
c.929G>A (p.Ser310Asn)
c.518G>A (p.Ser173Asn)
c.458G>A (p.Ser153Asn)
c.1142G>A (p.Ser381Asn)
c.1112G>A (p.Ser371Asn)
c.986G>A (p.Ser329Asn)
c.*444G>A (n.*444G>A)
16g.27362761G>CCA395298837IL4Rc.1409G>C (p.Ser470Thr)
c.1364G>C (p.Ser455Thr)
c.230-1342G>C (n.230-1342G>C)
c.*1452G>C (n.*1452G>C)
c.929G>C (p.Ser310Thr)
c.518G>C (p.Ser173Thr)
c.458G>C (p.Ser153Thr)
c.1142G>C (p.Ser381Thr)
c.1112G>C (p.Ser371Thr)
c.986G>C (p.Ser329Thr)
c.*444G>C (n.*444G>C)
gnomAD v4
16g.27362761G>TCA395298838IL4Rc.1409G>T (p.Ser470Ile)
c.1364G>T (p.Ser455Ile)
c.230-1342G>T (n.230-1342G>T)
c.*1452G>T (n.*1452G>T)
c.929G>T (p.Ser310Ile)
c.518G>T (p.Ser173Ile)
c.458G>T (p.Ser153Ile)
c.1142G>T (p.Ser381Ile)
c.1112G>T (p.Ser371Ile)
c.986G>T (p.Ser329Ile)
c.*444G>T (n.*444G>T)
gnomAD v4
16g.27362761_27362764delinsGTCCCA2215169732IL4Rc.1409_1412delinsGTCC (p.Ser470=)
c.1364_1367delinsGTCC (p.Ser455=)
c.230-1342_230-1339delinsGTCC (n.230-1342_230-1339delinsGTCC)
c.*1452_*1455delinsGTCC (n.*1452_*1455delinsGTCC)
c.929_932delinsGTCC (p.Ser310=)
c.518_521delinsGTCC (p.Ser173=)
c.458_461delinsGTCC (p.Ser153=)
c.1142_1145delinsGTCC (p.Ser381=)
c.1112_1115delinsGTCC (p.Ser371=)
c.986_989delinsGTCC (p.Ser329=)
c.*444_*447delinsGTCC (n.*444_*447delinsGTCC)
16g.27362762T>ACA395298839IL4Rc.1410T>A (p.Ser470Arg)
c.1365T>A (p.Ser455Arg)
c.230-1341T>A (n.230-1341T>A)
c.*1453T>A (n.*1453T>A)
c.930T>A (p.Ser310Arg)
c.519T>A (p.Ser173Arg)
c.459T>A (p.Ser153Arg)
c.1143T>A (p.Ser381Arg)
c.1113T>A (p.Ser371Arg)
c.987T>A (p.Ser329Arg)
c.*445T>A (n.*445T>A)
16g.27362762T>CCA494470616IL4Rc.1410T>C (p.Ser470=)
c.1365T>C (p.Ser455=)
c.230-1341T>C (n.230-1341T>C)
c.*1453T>C (n.*1453T>C)
c.930T>C (p.Ser310=)
c.519T>C (p.Ser173=)
c.459T>C (p.Ser153=)
c.1143T>C (p.Ser381=)
c.1113T>C (p.Ser371=)
c.987T>C (p.Ser329=)
c.*445T>C (n.*445T>C)
16g.27362762T>GCA395298840IL4Rc.1410T>G (p.Ser470Arg)
c.1365T>G (p.Ser455Arg)
c.230-1341T>G (n.230-1341T>G)
c.*1453T>G (n.*1453T>G)
c.930T>G (p.Ser310Arg)
c.519T>G (p.Ser173Arg)
c.459T>G (p.Ser153Arg)
c.1143T>G (p.Ser381Arg)
c.1113T>G (p.Ser371Arg)
c.987T>G (p.Ser329Arg)
c.*445T>G (n.*445T>G)
dbSNP
16g.27362762T=CA2215169733IL4Rc.1410T= (p.Ser470=)
c.1365T= (p.Ser455=)
c.230-1341T= (n.230-1341T=)
c.*1453T= (n.*1453T=)
c.930T= (p.Ser310=)
c.519T= (p.Ser173=)
c.459T= (p.Ser153=)
c.1143T= (p.Ser381=)
c.1113T= (p.Ser371=)
c.987T= (p.Ser329=)
c.*445T= (n.*445T=)
16g.27362766_27362768delCA919683175IL4Rc.1414_1416del (p.Pro472del)
c.1369_1371del (p.Pro457del)
c.230-1337_230-1335del (n.230-1337_230-1335del)
c.*1457_*1459del (n.*1457_*1459del)
c.934_936del (p.Pro312del)
c.523_525del (p.Pro175del)
c.463_465del (p.Pro155del)
c.1147_1149del (p.Pro383del)
c.1117_1119del (p.Pro373del)
c.991_993del (p.Pro331del)
c.*449_*451del (n.*449_*451del)
dbSNP gnomAD v4
16g.27362763C>ACA395298843IL4Rc.1411C>A (p.Pro471Thr)
c.1366C>A (p.Pro456Thr)
c.230-1340C>A (n.230-1340C>A)
c.*1454C>A (n.*1454C>A)
c.931C>A (p.Pro311Thr)
c.520C>A (p.Pro174Thr)
c.460C>A (p.Pro154Thr)
c.1144C>A (p.Pro382Thr)
c.1114C>A (p.Pro372Thr)
c.988C>A (p.Pro330Thr)
c.*446C>A (n.*446C>A)
16g.27362763C=CA2215169737IL4Rc.1411C= (p.Pro471=)
c.1366C= (p.Pro456=)
c.230-1340C= (n.230-1340C=)
c.*1454C= (n.*1454C=)
c.931C= (p.Pro311=)
c.520C= (p.Pro174=)
c.460C= (p.Pro154=)
c.1144C= (p.Pro382=)
c.1114C= (p.Pro372=)
c.988C= (p.Pro330=)
c.*446C= (n.*446C=)
16g.27362763C>GCA395298842IL4Rc.1411C>G (p.Pro471Ala)
c.1366C>G (p.Pro456Ala)
c.230-1340C>G (n.230-1340C>G)
c.*1454C>G (n.*1454C>G)
c.931C>G (p.Pro311Ala)
c.520C>G (p.Pro174Ala)
c.460C>G (p.Pro154Ala)
c.1144C>G (p.Pro382Ala)
c.1114C>G (p.Pro372Ala)
c.988C>G (p.Pro330Ala)
c.*446C>G (n.*446C>G)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
16g.27362763C>TCA395298841IL4Rc.1411C>T (p.Pro471Ser)
c.1366C>T (p.Pro456Ser)
c.230-1340C>T (n.230-1340C>T)
c.*1454C>T (n.*1454C>T)
c.931C>T (p.Pro311Ser)
c.520C>T (p.Pro174Ser)
c.460C>T (p.Pro154Ser)
c.1144C>T (p.Pro382Ser)
c.1114C>T (p.Pro372Ser)
c.988C>T (p.Pro330Ser)
c.*446C>T (n.*446C>T)
16g.27362764C>ACA395298844IL4Rc.1412C>A (p.Pro471His)
c.1367C>A (p.Pro456His)
c.230-1339C>A (n.230-1339C>A)
c.*1455C>A (n.*1455C>A)
c.932C>A (p.Pro311His)
c.521C>A (p.Pro174His)
c.461C>A (p.Pro154His)
c.1145C>A (p.Pro382His)
c.1115C>A (p.Pro372His)
c.989C>A (p.Pro330His)
c.*447C>A (n.*447C>A)
16g.27362764C=CA2215169741IL4Rc.1412C= (p.Pro471=)
c.1367C= (p.Pro456=)
c.230-1339C= (n.230-1339C=)
c.*1455C= (n.*1455C=)
c.932C= (p.Pro311=)
c.521C= (p.Pro174=)
c.461C= (p.Pro154=)
c.1145C= (p.Pro382=)
c.1115C= (p.Pro372=)
c.989C= (p.Pro330=)
c.*447C= (n.*447C=)
16g.27362764C>GCA395298845IL4Rc.1412C>G (p.Pro471Arg)
c.1367C>G (p.Pro456Arg)
c.230-1339C>G (n.230-1339C>G)
c.*1455C>G (n.*1455C>G)
c.932C>G (p.Pro311Arg)
c.521C>G (p.Pro174Arg)
c.461C>G (p.Pro154Arg)
c.1145C>G (p.Pro382Arg)
c.1115C>G (p.Pro372Arg)
c.989C>G (p.Pro330Arg)
c.*447C>G (n.*447C>G)
16g.27362764C>TCA7974555IL4Rc.1412C>T (p.Pro471Leu)
c.1367C>T (p.Pro456Leu)
c.230-1339C>T (n.230-1339C>T)
c.*1455C>T (n.*1455C>T)
c.932C>T (p.Pro311Leu)
c.521C>T (p.Pro174Leu)
c.461C>T (p.Pro154Leu)
c.1145C>T (p.Pro382Leu)
c.1115C>T (p.Pro372Leu)
c.989C>T (p.Pro330Leu)
c.*447C>T (n.*447C>T)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.27362765T>ACA494470620IL4Rc.1413T>A (p.Pro471=)
c.1368T>A (p.Pro456=)
c.230-1338T>A (n.230-1338T>A)
c.*1456T>A (n.*1456T>A)
c.933T>A (p.Pro311=)
c.522T>A (p.Pro174=)
c.462T>A (p.Pro154=)
c.1146T>A (p.Pro382=)
c.1116T>A (p.Pro372=)
c.990T>A (p.Pro330=)
c.*448T>A (n.*448T>A)
16g.27362765T>CCA494470621IL4Rc.1413T>C (p.Pro471=)
c.1368T>C (p.Pro456=)
c.230-1338T>C (n.230-1338T>C)
c.*1456T>C (n.*1456T>C)
c.933T>C (p.Pro311=)
c.522T>C (p.Pro174=)
c.462T>C (p.Pro154=)
c.1146T>C (p.Pro382=)
c.1116T>C (p.Pro372=)
c.990T>C (p.Pro330=)
c.*448T>C (n.*448T>C)
16g.27362765T>GCA494470622IL4Rc.1413T>G (p.Pro471=)
c.1368T>G (p.Pro456=)
c.230-1338T>G (n.230-1338T>G)
c.*1456T>G (n.*1456T>G)
c.933T>G (p.Pro311=)
c.522T>G (p.Pro174=)
c.462T>G (p.Pro154=)
c.1146T>G (p.Pro382=)
c.1116T>G (p.Pro372=)
c.990T>G (p.Pro330=)
c.*448T>G (n.*448T>G)
16g.27362766C>ACA395298846IL4Rc.1414C>A (p.Pro472Thr)
c.1369C>A (p.Pro457Thr)
c.230-1337C>A (n.230-1337C>A)
c.*1457C>A (n.*1457C>A)
c.934C>A (p.Pro312Thr)
c.523C>A (p.Pro175Thr)
c.463C>A (p.Pro155Thr)
c.1147C>A (p.Pro383Thr)
c.1117C>A (p.Pro373Thr)
c.991C>A (p.Pro331Thr)
c.*449C>A (n.*449C>A)
16g.27362766C=CA2215169743IL4Rc.1414C= (p.Pro472=)
c.1369C= (p.Pro457=)
c.230-1337C= (n.230-1337C=)
c.*1457C= (n.*1457C=)
c.934C= (p.Pro312=)
c.523C= (p.Pro175=)
c.463C= (p.Pro155=)
c.1147C= (p.Pro383=)
c.1117C= (p.Pro373=)
c.991C= (p.Pro331=)
c.*449C= (n.*449C=)
16g.27362766C>GCA395298847IL4Rc.1414C>G (p.Pro472Ala)
c.1369C>G (p.Pro457Ala)
c.230-1337C>G (n.230-1337C>G)
c.*1457C>G (n.*1457C>G)
c.934C>G (p.Pro312Ala)
c.523C>G (p.Pro175Ala)
c.463C>G (p.Pro155Ala)
c.1147C>G (p.Pro383Ala)
c.1117C>G (p.Pro373Ala)
c.991C>G (p.Pro331Ala)
c.*449C>G (n.*449C>G)
16g.27362766C>TCA7974556IL4Rc.1414C>T (p.Pro472Ser)
c.1369C>T (p.Pro457Ser)
c.230-1337C>T (n.230-1337C>T)
c.*1457C>T (n.*1457C>T)
c.934C>T (p.Pro312Ser)
c.523C>T (p.Pro175Ser)
c.463C>T (p.Pro155Ser)
c.1147C>T (p.Pro383Ser)
c.1117C>T (p.Pro373Ser)
c.991C>T (p.Pro331Ser)
c.*449C>T (n.*449C>T)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.27362767C>ACA395298848IL4Rc.1415C>A (p.Pro472His)
c.1370C>A (p.Pro457His)
c.230-1336C>A (n.230-1336C>A)
c.*1458C>A (n.*1458C>A)
c.935C>A (p.Pro312His)
c.524C>A (p.Pro175His)
c.464C>A (p.Pro155His)
c.1148C>A (p.Pro383His)
c.1118C>A (p.Pro373His)
c.992C>A (p.Pro331His)
c.*450C>A (n.*450C>A)
16g.27362767C=CA2215169744IL4Rc.1415C= (p.Pro472=)
c.1370C= (p.Pro457=)
c.230-1336C= (n.230-1336C=)
c.*1458C= (n.*1458C=)
c.935C= (p.Pro312=)
c.524C= (p.Pro175=)
c.464C= (p.Pro155=)
c.1148C= (p.Pro383=)
c.1118C= (p.Pro373=)
c.992C= (p.Pro331=)
c.*450C= (n.*450C=)
16g.27362767C>GCA395298849IL4Rc.1415C>G (p.Pro472Arg)
c.1370C>G (p.Pro457Arg)
c.230-1336C>G (n.230-1336C>G)
c.*1458C>G (n.*1458C>G)
c.935C>G (p.Pro312Arg)
c.524C>G (p.Pro175Arg)
c.464C>G (p.Pro155Arg)
c.1148C>G (p.Pro383Arg)
c.1118C>G (p.Pro373Arg)
c.992C>G (p.Pro331Arg)
c.*450C>G (n.*450C>G)
16g.27362767C>TCA7974557IL4Rc.1415C>T (p.Pro472Leu)
c.1370C>T (p.Pro457Leu)
c.230-1336C>T (n.230-1336C>T)
c.*1458C>T (n.*1458C>T)
c.935C>T (p.Pro312Leu)
c.524C>T (p.Pro175Leu)
c.464C>T (p.Pro155Leu)
c.1148C>T (p.Pro383Leu)
c.1118C>T (p.Pro373Leu)
c.992C>T (p.Pro331Leu)
c.*450C>T (n.*450C>T)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.27362768T>ACA494470626IL4Rc.1416T>A (p.Pro472=)
c.1371T>A (p.Pro457=)
c.230-1335T>A (n.230-1335T>A)
c.*1459T>A (n.*1459T>A)
c.936T>A (p.Pro312=)
c.525T>A (p.Pro175=)
c.465T>A (p.Pro155=)
c.1149T>A (p.Pro383=)
c.1119T>A (p.Pro373=)
c.993T>A (p.Pro331=)
c.*451T>A (n.*451T>A)
16g.27362768T>CCA494470628IL4Rc.1416T>C (p.Pro472=)
c.1371T>C (p.Pro457=)
c.230-1335T>C (n.230-1335T>C)
c.*1459T>C (n.*1459T>C)
c.936T>C (p.Pro312=)
c.525T>C (p.Pro175=)
c.465T>C (p.Pro155=)
c.1149T>C (p.Pro383=)
c.1119T>C (p.Pro373=)
c.993T>C (p.Pro331=)
c.*451T>C (n.*451T>C)
16g.27362768T>GCA494470629IL4Rc.1416T>G (p.Pro472=)
c.1371T>G (p.Pro457=)
c.230-1335T>G (n.230-1335T>G)
c.*1459T>G (n.*1459T>G)
c.936T>G (p.Pro312=)
c.525T>G (p.Pro175=)
c.465T>G (p.Pro155=)
c.1149T>G (p.Pro383=)
c.1119T>G (p.Pro373=)
c.993T>G (p.Pro331=)
c.*451T>G (n.*451T>G)
16g.27362769G>ACA395298850IL4Rc.1417G>A (p.Ala473Thr)
c.1372G>A (p.Ala458Thr)
c.230-1334G>A (n.230-1334G>A)
c.*1460G>A (n.*1460G>A)
c.937G>A (p.Ala313Thr)
c.526G>A (p.Ala176Thr)
c.466G>A (p.Ala156Thr)
c.1150G>A (p.Ala384Thr)
c.1120G>A (p.Ala374Thr)
c.994G>A (p.Ala332Thr)
c.*452G>A (n.*452G>A)
16g.27362769G>CCA395298851IL4Rc.1417G>C (p.Ala473Pro)
c.1372G>C (p.Ala458Pro)
c.230-1334G>C (n.230-1334G>C)
c.*1460G>C (n.*1460G>C)
c.937G>C (p.Ala313Pro)
c.526G>C (p.Ala176Pro)
c.466G>C (p.Ala156Pro)
c.1150G>C (p.Ala384Pro)
c.1120G>C (p.Ala374Pro)
c.994G>C (p.Ala332Pro)
c.*452G>C (n.*452G>C)
16g.27362769G>TCA395298852IL4Rc.1417G>T (p.Ala473Ser)
c.1372G>T (p.Ala458Ser)
c.230-1334G>T (n.230-1334G>T)
c.*1460G>T (n.*1460G>T)
c.937G>T (p.Ala313Ser)
c.526G>T (p.Ala176Ser)
c.466G>T (p.Ala156Ser)
c.1150G>T (p.Ala384Ser)
c.1120G>T (p.Ala374Ser)
c.994G>T (p.Ala332Ser)
c.*452G>T (n.*452G>T)
16g.27362770C>ACA395298853IL4Rc.1418C>A (p.Ala473Asp)
c.1373C>A (p.Ala458Asp)
c.230-1333C>A (n.230-1333C>A)
c.*1461C>A (n.*1461C>A)
c.938C>A (p.Ala313Asp)
c.527C>A (p.Ala176Asp)
c.467C>A (p.Ala156Asp)
c.1151C>A (p.Ala384Asp)
c.1121C>A (p.Ala374Asp)
c.995C>A (p.Ala332Asp)
c.*453C>A (n.*453C>A)
16g.27362770C=CA2215169749IL4Rc.1418C= (p.Ala473=)
c.1373C= (p.Ala458=)
c.230-1333C= (n.230-1333C=)
c.*1461C= (n.*1461C=)
c.938C= (p.Ala313=)
c.527C= (p.Ala176=)
c.467C= (p.Ala156=)
c.1151C= (p.Ala384=)
c.1121C= (p.Ala374=)
c.995C= (p.Ala332=)
c.*453C= (n.*453C=)
16g.27362770C>GCA395298854IL4Rc.1418C>G (p.Ala473Gly)
c.1373C>G (p.Ala458Gly)
c.230-1333C>G (n.230-1333C>G)
c.*1461C>G (n.*1461C>G)
c.938C>G (p.Ala313Gly)
c.527C>G (p.Ala176Gly)
c.467C>G (p.Ala156Gly)
c.1151C>G (p.Ala384Gly)
c.1121C>G (p.Ala374Gly)
c.995C>G (p.Ala332Gly)
c.*453C>G (n.*453C>G)
16g.27362770C>TCA7974558IL4Rc.1418C>T (p.Ala473Val)
c.1373C>T (p.Ala458Val)
c.230-1333C>T (n.230-1333C>T)
c.*1461C>T (n.*1461C>T)
c.938C>T (p.Ala313Val)
c.527C>T (p.Ala176Val)
c.467C>T (p.Ala156Val)
c.1151C>T (p.Ala384Val)
c.1121C>T (p.Ala374Val)
c.995C>T (p.Ala332Val)
c.*453C>T (n.*453C>T)
dbSNP ExAC gnomAD v2 gnomAD v4
16g.27362771C>ACA494470631IL4Rc.1419C>A (p.Ala473=)
c.1374C>A (p.Ala458=)
c.230-1332C>A (n.230-1332C>A)
c.*1462C>A (n.*1462C>A)
c.939C>A (p.Ala313=)
c.528C>A (p.Ala176=)
c.468C>A (p.Ala156=)
c.1152C>A (p.Ala384=)
c.1122C>A (p.Ala374=)
c.996C>A (p.Ala332=)
c.*454C>A (n.*454C>A)
16g.27362771C=CA2215169755IL4Rc.1419C= (p.Ala473=)
c.1374C= (p.Ala458=)
c.230-1332C= (n.230-1332C=)
c.*1462C= (n.*1462C=)
c.939C= (p.Ala313=)
c.528C= (p.Ala176=)
c.468C= (p.Ala156=)
c.1152C= (p.Ala384=)
c.1122C= (p.Ala374=)
c.996C= (p.Ala332=)
c.*454C= (n.*454C=)
16g.27362771C>GCA494470634IL4Rc.1419C>G (p.Ala473=)
c.1374C>G (p.Ala458=)
c.230-1332C>G (n.230-1332C>G)
c.*1462C>G (n.*1462C>G)
c.939C>G (p.Ala313=)
c.528C>G (p.Ala176=)
c.468C>G (p.Ala156=)
c.1152C>G (p.Ala384=)
c.1122C>G (p.Ala374=)
c.996C>G (p.Ala332=)
c.*454C>G (n.*454C>G)
dbSNP
16g.27362771C>TCA7974559IL4Rc.1419C>T (p.Ala473=)
c.1374C>T (p.Ala458=)
c.230-1332C>T (n.230-1332C>T)
c.*1462C>T (n.*1462C>T)
c.939C>T (p.Ala313=)
c.528C>T (p.Ala176=)
c.468C>T (p.Ala156=)
c.1152C>T (p.Ala384=)
c.1122C>T (p.Ala374=)
c.996C>T (p.Ala332=)
c.*454C>T (n.*454C>T)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.27362772A>CCA395298855IL4Rc.1420A>C (p.Ser474Arg)
c.1375A>C (p.Ser459Arg)
c.230-1331A>C (n.230-1331A>C)
c.*1463A>C (n.*1463A>C)
c.940A>C (p.Ser314Arg)
c.529A>C (p.Ser177Arg)
c.469A>C (p.Ser157Arg)
c.1153A>C (p.Ser385Arg)
c.1123A>C (p.Ser375Arg)
c.997A>C (p.Ser333Arg)
c.*455A>C (n.*455A>C)
16g.27362772A>GCA395298856IL4Rc.1420A>G (p.Ser474Gly)
c.1375A>G (p.Ser459Gly)
c.230-1331A>G (n.230-1331A>G)
c.*1463A>G (n.*1463A>G)
c.940A>G (p.Ser314Gly)
c.529A>G (p.Ser177Gly)
c.469A>G (p.Ser157Gly)
c.1153A>G (p.Ser385Gly)
c.1123A>G (p.Ser375Gly)
c.997A>G (p.Ser333Gly)
c.*455A>G (n.*455A>G)
16g.27362772A>TCA395298857IL4Rc.1420A>T (p.Ser474Cys)
c.1375A>T (p.Ser459Cys)
c.230-1331A>T (n.230-1331A>T)
c.*1463A>T (n.*1463A>T)
c.940A>T (p.Ser314Cys)
c.529A>T (p.Ser177Cys)
c.469A>T (p.Ser157Cys)
c.1153A>T (p.Ser385Cys)
c.1123A>T (p.Ser375Cys)
c.997A>T (p.Ser333Cys)
c.*455A>T (n.*455A>T)
16g.27362773G>ACA279686846IL4Rc.1421G>A (p.Ser474Asn)
c.1376G>A (p.Ser459Asn)
c.230-1330G>A (n.230-1330G>A)
c.*1464G>A (n.*1464G>A)
c.941G>A (p.Ser314Asn)
c.530G>A (p.Ser177Asn)
c.470G>A (p.Ser157Asn)
c.1154G>A (p.Ser385Asn)
c.1124G>A (p.Ser375Asn)
c.998G>A (p.Ser333Asn)
c.*456G>A (n.*456G>A)
dbSNP gnomAD v4
16g.27362773G>CCA395298858IL4Rc.1421G>C (p.Ser474Thr)
c.1376G>C (p.Ser459Thr)
c.230-1330G>C (n.230-1330G>C)
c.*1464G>C (n.*1464G>C)
c.941G>C (p.Ser314Thr)
c.530G>C (p.Ser177Thr)
c.470G>C (p.Ser157Thr)
c.1154G>C (p.Ser385Thr)
c.1124G>C (p.Ser375Thr)
c.998G>C (p.Ser333Thr)
c.*456G>C (n.*456G>C)
16g.27362773G=CA2215169764IL4Rc.1421G= (p.Ser474=)
c.1376G= (p.Ser459=)
c.230-1330G= (n.230-1330G=)
c.*1464G= (n.*1464G=)
c.941G= (p.Ser314=)
c.530G= (p.Ser177=)
c.470G= (p.Ser157=)
c.1154G= (p.Ser385=)
c.1124G= (p.Ser375=)
c.998G= (p.Ser333=)
c.*456G= (n.*456G=)
16g.27362773G>TCA395298859IL4Rc.1421G>T (p.Ser474Ile)
c.1376G>T (p.Ser459Ile)
c.230-1330G>T (n.230-1330G>T)
c.*1464G>T (n.*1464G>T)
c.941G>T (p.Ser314Ile)
c.530G>T (p.Ser177Ile)
c.470G>T (p.Ser157Ile)
c.1154G>T (p.Ser385Ile)
c.1124G>T (p.Ser375Ile)
c.998G>T (p.Ser333Ile)
c.*456G>T (n.*456G>T)
16g.27362774C>ACA395298860IL4Rc.1422C>A (p.Ser474Arg)
c.1377C>A (p.Ser459Arg)
c.230-1329C>A (n.230-1329C>A)
c.*1465C>A (n.*1465C>A)
c.942C>A (p.Ser314Arg)
c.531C>A (p.Ser177Arg)
c.471C>A (p.Ser157Arg)
c.1155C>A (p.Ser385Arg)
c.1125C>A (p.Ser375Arg)
c.999C>A (p.Ser333Arg)
c.*457C>A (n.*457C>A)
16g.27362774C=CA2215169765IL4Rc.1422C= (p.Ser474=)
c.1377C= (p.Ser459=)
c.230-1329C= (n.230-1329C=)
c.*1465C= (n.*1465C=)
c.942C= (p.Ser314=)
c.531C= (p.Ser177=)
c.471C= (p.Ser157=)
c.1155C= (p.Ser385=)
c.1125C= (p.Ser375=)
c.999C= (p.Ser333=)
c.*457C= (n.*457C=)
16g.27362774C>GCA395298861IL4Rc.1422C>G (p.Ser474Arg)
c.1377C>G (p.Ser459Arg)
c.230-1329C>G (n.230-1329C>G)
c.*1465C>G (n.*1465C>G)
c.942C>G (p.Ser314Arg)
c.531C>G (p.Ser177Arg)
c.471C>G (p.Ser157Arg)
c.1155C>G (p.Ser385Arg)
c.1125C>G (p.Ser375Arg)
c.999C>G (p.Ser333Arg)
c.*457C>G (n.*457C>G)
16g.27362774C>TCA494470636IL4Rc.1422C>T (p.Ser474=)
c.1377C>T (p.Ser459=)
c.230-1329C>T (n.230-1329C>T)
c.*1465C>T (n.*1465C>T)
c.942C>T (p.Ser314=)
c.531C>T (p.Ser177=)
c.471C>T (p.Ser157=)
c.1155C>T (p.Ser385=)
c.1125C>T (p.Ser375=)
c.999C>T (p.Ser333=)
c.*457C>T (n.*457C>T)
dbSNP gnomAD v2 gnomAD v4
16g.27362775C>ACA7974560IL4Rc.1423C>A (p.Pro475Thr)
c.1378C>A (p.Pro460Thr)
c.230-1328C>A (n.230-1328C>A)
c.*1466C>A (n.*1466C>A)
c.943C>A (p.Pro315Thr)
c.532C>A (p.Pro178Thr)
c.472C>A (p.Pro158Thr)
c.1156C>A (p.Pro386Thr)
c.1126C>A (p.Pro376Thr)
c.1000C>A (p.Pro334Thr)
c.*458C>A (n.*458C>A)
dbSNP ExAC gnomAD v2 gnomAD v4
16g.27362775C=CA2215169767IL4Rc.1423C= (p.Pro475=)
c.1378C= (p.Pro460=)
c.230-1328C= (n.230-1328C=)
c.*1466C= (n.*1466C=)
c.943C= (p.Pro315=)
c.532C= (p.Pro178=)
c.472C= (p.Pro158=)
c.1156C= (p.Pro386=)
c.1126C= (p.Pro376=)
c.1000C= (p.Pro334=)
c.*458C= (n.*458C=)
16g.27362775C>GCA395298862IL4Rc.1423C>G (p.Pro475Ala)
c.1378C>G (p.Pro460Ala)
c.230-1328C>G (n.230-1328C>G)
c.*1466C>G (n.*1466C>G)
c.943C>G (p.Pro315Ala)
c.532C>G (p.Pro178Ala)
c.472C>G (p.Pro158Ala)
c.1156C>G (p.Pro386Ala)
c.1126C>G (p.Pro376Ala)
c.1000C>G (p.Pro334Ala)
c.*458C>G (n.*458C>G)
16g.27362775C>TCA395298863IL4Rc.1423C>T (p.Pro475Ser)
c.1378C>T (p.Pro460Ser)
c.230-1328C>T (n.230-1328C>T)
c.*1466C>T (n.*1466C>T)
c.943C>T (p.Pro315Ser)
c.532C>T (p.Pro178Ser)
c.472C>T (p.Pro158Ser)
c.1156C>T (p.Pro386Ser)
c.1126C>T (p.Pro376Ser)
c.1000C>T (p.Pro334Ser)
c.*458C>T (n.*458C>T)
COSMIC
16g.27362776C>ACA395298864IL4Rc.1424C>A (p.Pro475Gln)
c.1379C>A (p.Pro460Gln)
c.230-1327C>A (n.230-1327C>A)
c.*1467C>A (n.*1467C>A)
c.944C>A (p.Pro315Gln)
c.533C>A (p.Pro178Gln)
c.473C>A (p.Pro158Gln)
c.1157C>A (p.Pro386Gln)
c.1127C>A (p.Pro376Gln)
c.1001C>A (p.Pro334Gln)
c.*459C>A (n.*459C>A)
16g.27362776C=CA2215169772IL4Rc.1424C= (p.Pro475=)
c.1379C= (p.Pro460=)
c.230-1327C= (n.230-1327C=)
c.*1467C= (n.*1467C=)
c.944C= (p.Pro315=)
c.533C= (p.Pro178=)
c.473C= (p.Pro158=)
c.1157C= (p.Pro386=)
c.1127C= (p.Pro376=)
c.1001C= (p.Pro334=)
c.*459C= (n.*459C=)
16g.27362776C>GCA395298865IL4Rc.1424C>G (p.Pro475Arg)
c.1379C>G (p.Pro460Arg)
c.230-1327C>G (n.230-1327C>G)
c.*1467C>G (n.*1467C>G)
c.944C>G (p.Pro315Arg)
c.533C>G (p.Pro178Arg)
c.473C>G (p.Pro158Arg)
c.1157C>G (p.Pro386Arg)
c.1127C>G (p.Pro376Arg)
c.1001C>G (p.Pro334Arg)
c.*459C>G (n.*459C>G)
gnomAD v4 COSMIC
16g.27362776C>TCA7974561IL4Rc.1424C>T (p.Pro475Leu)
c.1379C>T (p.Pro460Leu)
c.230-1327C>T (n.230-1327C>T)
c.*1467C>T (n.*1467C>T)
c.944C>T (p.Pro315Leu)
c.533C>T (p.Pro178Leu)
c.473C>T (p.Pro158Leu)
c.1157C>T (p.Pro386Leu)
c.1127C>T (p.Pro376Leu)
c.1001C>T (p.Pro334Leu)
c.*459C>T (n.*459C>T)
dbSNP ExAC gnomAD v2 gnomAD v4
16g.27362777G>ACA7974562IL4Rc.1425G>A (p.Pro475=)
c.1380G>A (p.Pro460=)
c.230-1326G>A (n.230-1326G>A)
c.*1468G>A (n.*1468G>A)
c.945G>A (p.Pro315=)
c.534G>A (p.Pro178=)
c.474G>A (p.Pro158=)
c.1158G>A (p.Pro386=)
c.1128G>A (p.Pro376=)
c.1002G>A (p.Pro334=)
c.*460G>A (n.*460G>A)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.27362777G>CCA494470641IL4Rc.1425G>C (p.Pro475=)
c.1380G>C (p.Pro460=)
c.230-1326G>C (n.230-1326G>C)
c.*1468G>C (n.*1468G>C)
c.945G>C (p.Pro315=)
c.534G>C (p.Pro178=)
c.474G>C (p.Pro158=)
c.1158G>C (p.Pro386=)
c.1128G>C (p.Pro376=)
c.1002G>C (p.Pro334=)
c.*460G>C (n.*460G>C)
16g.27362777G=CA2215169774IL4Rc.1425G= (p.Pro475=)
c.1380G= (p.Pro460=)
c.230-1326G= (n.230-1326G=)
c.*1468G= (n.*1468G=)
c.945G= (p.Pro315=)
c.534G= (p.Pro178=)
c.474G= (p.Pro158=)
c.1158G= (p.Pro386=)
c.1128G= (p.Pro376=)
c.1002G= (p.Pro334=)
c.*460G= (n.*460G=)
16g.27362777G>TCA494470643IL4Rc.1425G>T (p.Pro475=)
c.1380G>T (p.Pro460=)
c.230-1326G>T (n.230-1326G>T)
c.*1468G>T (n.*1468G>T)
c.945G>T (p.Pro315=)
c.534G>T (p.Pro178=)
c.474G>T (p.Pro158=)
c.1158G>T (p.Pro386=)
c.1128G>T (p.Pro376=)
c.1002G>T (p.Pro334=)
c.*460G>T (n.*460G>T)
16g.27362778A>CCA395298866IL4Rc.1426A>C (p.Thr476Pro)
c.1381A>C (p.Thr461Pro)
c.230-1325A>C (n.230-1325A>C)
c.*1469A>C (n.*1469A>C)
c.946A>C (p.Thr316Pro)
c.535A>C (p.Thr179Pro)
c.475A>C (p.Thr159Pro)
c.1159A>C (p.Thr387Pro)
c.1129A>C (p.Thr377Pro)
c.1003A>C (p.Thr335Pro)
c.*461A>C (n.*461A>C)
16g.27362778A>GCA395298867IL4Rc.1426A>G (p.Thr476Ala)
c.1381A>G (p.Thr461Ala)
c.230-1325A>G (n.230-1325A>G)
c.*1469A>G (n.*1469A>G)
c.946A>G (p.Thr316Ala)
c.535A>G (p.Thr179Ala)
c.475A>G (p.Thr159Ala)
c.1159A>G (p.Thr387Ala)
c.1129A>G (p.Thr377Ala)
c.1003A>G (p.Thr335Ala)
c.*461A>G (n.*461A>G)
16g.27362778A>TCA395298868IL4Rc.1426A>T (p.Thr476Ser)
c.1381A>T (p.Thr461Ser)
c.230-1325A>T (n.230-1325A>T)
c.*1469A>T (n.*1469A>T)
c.946A>T (p.Thr316Ser)
c.535A>T (p.Thr179Ser)
c.475A>T (p.Thr159Ser)
c.1159A>T (p.Thr387Ser)
c.1129A>T (p.Thr377Ser)
c.1003A>T (p.Thr335Ser)
c.*461A>T (n.*461A>T)
gnomAD v4
16g.27362779C>ACA395298869IL4Rc.1427C>A (p.Thr476Asn)
c.1382C>A (p.Thr461Asn)
c.230-1324C>A (n.230-1324C>A)
c.*1470C>A (n.*1470C>A)
c.947C>A (p.Thr316Asn)
c.536C>A (p.Thr179Asn)
c.476C>A (p.Thr159Asn)
c.1160C>A (p.Thr387Asn)
c.1130C>A (p.Thr377Asn)
c.1004C>A (p.Thr335Asn)
c.*462C>A (n.*462C>A)
gnomAD v4
16g.27362779C>GCA395298870IL4Rc.1427C>G (p.Thr476Ser)
c.1382C>G (p.Thr461Ser)
c.230-1324C>G (n.230-1324C>G)
c.*1470C>G (n.*1470C>G)
c.947C>G (p.Thr316Ser)
c.536C>G (p.Thr179Ser)
c.476C>G (p.Thr159Ser)
c.1160C>G (p.Thr387Ser)
c.1130C>G (p.Thr377Ser)
c.1004C>G (p.Thr335Ser)
c.*462C>G (n.*462C>G)
16g.27362779C>TCA395298871IL4Rc.1427C>T (p.Thr476Ile)
c.1382C>T (p.Thr461Ile)
c.230-1324C>T (n.230-1324C>T)
c.*1470C>T (n.*1470C>T)
c.947C>T (p.Thr316Ile)
c.536C>T (p.Thr179Ile)
c.476C>T (p.Thr159Ile)
c.1160C>T (p.Thr387Ile)
c.1130C>T (p.Thr377Ile)
c.1004C>T (p.Thr335Ile)
c.*462C>T (n.*462C>T)
16g.27362780C>ACA494470645IL4Rc.1428C>A (p.Thr476=)
c.1383C>A (p.Thr461=)
c.230-1323C>A (n.230-1323C>A)
c.*1471C>A (n.*1471C>A)
c.948C>A (p.Thr316=)
c.537C>A (p.Thr179=)
c.477C>A (p.Thr159=)
c.1161C>A (p.Thr387=)
c.1131C>A (p.Thr377=)
c.1005C>A (p.Thr335=)
c.*463C>A (n.*463C>A)
16g.27362780C=CA2215169775IL4Rc.1428C= (p.Thr476=)
c.1383C= (p.Thr461=)
c.230-1323C= (n.230-1323C=)
c.*1471C= (n.*1471C=)
c.948C= (p.Thr316=)
c.537C= (p.Thr179=)
c.477C= (p.Thr159=)
c.1161C= (p.Thr387=)
c.1131C= (p.Thr377=)
c.1005C= (p.Thr335=)
c.*463C= (n.*463C=)
16g.27362780C>GCA494470646IL4Rc.1428C>G (p.Thr476=)
c.1383C>G (p.Thr461=)
c.230-1323C>G (n.230-1323C>G)
c.*1471C>G (n.*1471C>G)
c.948C>G (p.Thr316=)
c.537C>G (p.Thr179=)
c.477C>G (p.Thr159=)
c.1161C>G (p.Thr387=)
c.1131C>G (p.Thr377=)
c.1005C>G (p.Thr335=)
c.*463C>G (n.*463C>G)
16g.27362780C>TCA494470647IL4Rc.1428C>T (p.Thr476=)
c.1383C>T (p.Thr461=)
c.230-1323C>T (n.230-1323C>T)
c.*1471C>T (n.*1471C>T)
c.948C>T (p.Thr316=)
c.537C>T (p.Thr179=)
c.477C>T (p.Thr159=)
c.1161C>T (p.Thr387=)
c.1131C>T (p.Thr377=)
c.1005C>T (p.Thr335=)
c.*463C>T (n.*463C>T)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
16g.27362781C>ACA395298872IL4Rc.1429C>A (p.Gln477Lys)
c.1384C>A (p.Gln462Lys)
c.230-1322C>A (n.230-1322C>A)
c.*1472C>A (n.*1472C>A)
c.949C>A (p.Gln317Lys)
c.538C>A (p.Gln180Lys)
c.478C>A (p.Gln160Lys)
c.1162C>A (p.Gln388Lys)
c.1132C>A (p.Gln378Lys)
c.1006C>A (p.Gln336Lys)
c.*464C>A (n.*464C>A)
16g.27362781C>GCA395298873IL4Rc.1429C>G (p.Gln477Glu)
c.1384C>G (p.Gln462Glu)
c.230-1322C>G (n.230-1322C>G)
c.*1472C>G (n.*1472C>G)
c.949C>G (p.Gln317Glu)
c.538C>G (p.Gln180Glu)
c.478C>G (p.Gln160Glu)
c.1162C>G (p.Gln388Glu)
c.1132C>G (p.Gln378Glu)
c.1006C>G (p.Gln336Glu)
c.*464C>G (n.*464C>G)
16g.27362781C>TCA395298874IL4Rc.1429C>T (p.Gln477Ter)
c.1384C>T (p.Gln462Ter)
c.230-1322C>T (n.230-1322C>T)
c.*1472C>T (n.*1472C>T)
c.949C>T (p.Gln317Ter)
c.538C>T (p.Gln180Ter)
c.478C>T (p.Gln160Ter)
c.1162C>T (p.Gln388Ter)
c.1132C>T (p.Gln378Ter)
c.1006C>T (p.Gln336Ter)
c.*464C>T (n.*464C>T)
16g.27362782A=CA2215169776IL4Rc.1430A= (p.Gln477=)
c.1385A= (p.Gln462=)
c.230-1321A= (n.230-1321A=)
c.*1473A= (n.*1473A=)
c.950A= (p.Gln317=)
c.539A= (p.Gln180=)
c.479A= (p.Gln160=)
c.1163A= (p.Gln388=)
c.1133A= (p.Gln378=)
c.1007A= (p.Gln336=)
c.*465A= (n.*465A=)
16g.27362782A>CCA395298875IL4Rc.1430A>C (p.Gln477Pro)
c.1385A>C (p.Gln462Pro)
c.230-1321A>C (n.230-1321A>C)
c.*1473A>C (n.*1473A>C)
c.950A>C (p.Gln317Pro)
c.539A>C (p.Gln180Pro)
c.479A>C (p.Gln160Pro)
c.1163A>C (p.Gln388Pro)
c.1133A>C (p.Gln378Pro)
c.1007A>C (p.Gln336Pro)
c.*465A>C (n.*465A>C)
16g.27362782A>GCA395298876IL4Rc.1430A>G (p.Gln477Arg)
c.1385A>G (p.Gln462Arg)
c.230-1321A>G (n.230-1321A>G)
c.*1473A>G (n.*1473A>G)
c.950A>G (p.Gln317Arg)
c.539A>G (p.Gln180Arg)
c.479A>G (p.Gln160Arg)
c.1163A>G (p.Gln388Arg)
c.1133A>G (p.Gln378Arg)
c.1007A>G (p.Gln336Arg)
c.*465A>G (n.*465A>G)
dbSNP
16g.27362782A>TCA395298877IL4Rc.1430A>T (p.Gln477Leu)
c.1385A>T (p.Gln462Leu)
c.230-1321A>T (n.230-1321A>T)
c.*1473A>T (n.*1473A>T)
c.950A>T (p.Gln317Leu)
c.539A>T (p.Gln180Leu)
c.479A>T (p.Gln160Leu)
c.1163A>T (p.Gln388Leu)
c.1133A>T (p.Gln378Leu)
c.1007A>T (p.Gln336Leu)
c.*465A>T (n.*465A>T)
16g.27362783G>ACA494470657IL4Rc.1431G>A (p.Gln477=)
c.1386G>A (p.Gln462=)
c.230-1320G>A (n.230-1320G>A)
c.*1474G>A (n.*1474G>A)
c.951G>A (p.Gln317=)
c.540G>A (p.Gln180=)
c.480G>A (p.Gln160=)
c.1164G>A (p.Gln388=)
c.1134G>A (p.Gln378=)
c.1008G>A (p.Gln336=)
c.*466G>A (n.*466G>A)
16g.27362783G>CCA395298878IL4Rc.1431G>C (p.Gln477His)
c.1386G>C (p.Gln462His)
c.230-1320G>C (n.230-1320G>C)
c.*1474G>C (n.*1474G>C)
c.951G>C (p.Gln317His)
c.540G>C (p.Gln180His)
c.480G>C (p.Gln160His)
c.1164G>C (p.Gln388His)
c.1134G>C (p.Gln378His)
c.1008G>C (p.Gln336His)
c.*466G>C (n.*466G>C)
16g.27362783G>TCA395298879IL4Rc.1431G>T (p.Gln477His)
c.1386G>T (p.Gln462His)
c.230-1320G>T (n.230-1320G>T)
c.*1474G>T (n.*1474G>T)
c.951G>T (p.Gln317His)
c.540G>T (p.Gln180His)
c.480G>T (p.Gln160His)
c.1164G>T (p.Gln388His)
c.1134G>T (p.Gln378His)
c.1008G>T (p.Gln336His)
c.*466G>T (n.*466G>T)
16g.27362784A>CCA395298880IL4Rc.1432A>C (p.Ser478Arg)
c.1387A>C (p.Ser463Arg)
c.230-1319A>C (n.230-1319A>C)
c.*1475A>C (n.*1475A>C)
c.952A>C (p.Ser318Arg)
c.541A>C (p.Ser181Arg)
c.481A>C (p.Ser161Arg)
c.1165A>C (p.Ser389Arg)
c.1135A>C (p.Ser379Arg)
c.1009A>C (p.Ser337Arg)
c.*467A>C (n.*467A>C)
16g.27362784A>GCA395298882IL4Rc.1432A>G (p.Ser478Gly)
c.1387A>G (p.Ser463Gly)
c.230-1319A>G (n.230-1319A>G)
c.*1475A>G (n.*1475A>G)
c.952A>G (p.Ser318Gly)
c.541A>G (p.Ser181Gly)
c.481A>G (p.Ser161Gly)
c.1165A>G (p.Ser389Gly)
c.1135A>G (p.Ser379Gly)
c.1009A>G (p.Ser337Gly)
c.*467A>G (n.*467A>G)
gnomAD v4
16g.27362784A>TCA395298881IL4Rc.1432A>T (p.Ser478Cys)
c.1387A>T (p.Ser463Cys)
c.230-1319A>T (n.230-1319A>T)
c.*1475A>T (n.*1475A>T)
c.952A>T (p.Ser318Cys)
c.541A>T (p.Ser181Cys)
c.481A>T (p.Ser161Cys)
c.1165A>T (p.Ser389Cys)
c.1135A>T (p.Ser379Cys)
c.1009A>T (p.Ser337Cys)
c.*467A>T (n.*467A>T)
16g.27362785G>ACA395298883IL4Rc.1433G>A (p.Ser478Asn)
c.1388G>A (p.Ser463Asn)
c.230-1318G>A (n.230-1318G>A)
c.*1476G>A (n.*1476G>A)
c.953G>A (p.Ser318Asn)
c.542G>A (p.Ser181Asn)
c.482G>A (p.Ser161Asn)
c.1166G>A (p.Ser389Asn)
c.1136G>A (p.Ser379Asn)
c.1010G>A (p.Ser337Asn)
c.*468G>A (n.*468G>A)
dbSNP gnomAD v2 gnomAD v4
16g.27362785G>CCA395298884IL4Rc.1433G>C (p.Ser478Thr)
c.1388G>C (p.Ser463Thr)
c.230-1318G>C (n.230-1318G>C)
c.*1476G>C (n.*1476G>C)
c.953G>C (p.Ser318Thr)
c.542G>C (p.Ser181Thr)
c.482G>C (p.Ser161Thr)
c.1166G>C (p.Ser389Thr)
c.1136G>C (p.Ser379Thr)
c.1010G>C (p.Ser337Thr)
c.*468G>C (n.*468G>C)
gnomAD v4
16g.27362785G=CA2215169777IL4Rc.1433G= (p.Ser478=)
c.1388G= (p.Ser463=)
c.230-1318G= (n.230-1318G=)
c.*1476G= (n.*1476G=)
c.953G= (p.Ser318=)
c.542G= (p.Ser181=)
c.482G= (p.Ser161=)
c.1166G= (p.Ser389=)
c.1136G= (p.Ser379=)
c.1010G= (p.Ser337=)
c.*468G= (n.*468G=)
16g.27362785G>TCA395298885IL4Rc.1433G>T (p.Ser478Ile)
c.1388G>T (p.Ser463Ile)
c.230-1318G>T (n.230-1318G>T)
c.*1476G>T (n.*1476G>T)
c.953G>T (p.Ser318Ile)
c.542G>T (p.Ser181Ile)
c.482G>T (p.Ser161Ile)
c.1166G>T (p.Ser389Ile)
c.1136G>T (p.Ser379Ile)
c.1010G>T (p.Ser337Ile)
c.*468G>T (n.*468G>T)
16g.27362786T>ACA395298886IL4Rc.1434T>A (p.Ser478Arg)
c.1389T>A (p.Ser463Arg)
c.230-1317T>A (n.230-1317T>A)
c.*1477T>A (n.*1477T>A)
c.954T>A (p.Ser318Arg)
c.543T>A (p.Ser181Arg)
c.483T>A (p.Ser161Arg)
c.1167T>A (p.Ser389Arg)
c.1137T>A (p.Ser379Arg)
c.1011T>A (p.Ser337Arg)
c.*469T>A (n.*469T>A)
16g.27362786T>CCA494470667IL4Rc.1434T>C (p.Ser478=)
c.1389T>C (p.Ser463=)
c.230-1317T>C (n.230-1317T>C)
c.*1477T>C (n.*1477T>C)
c.954T>C (p.Ser318=)
c.543T>C (p.Ser181=)
c.483T>C (p.Ser161=)
c.1167T>C (p.Ser389=)
c.1137T>C (p.Ser379=)
c.1011T>C (p.Ser337=)
c.*469T>C (n.*469T>C)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
16g.27362786T>GCA395298887IL4Rc.1434T>G (p.Ser478Arg)
c.1389T>G (p.Ser463Arg)
c.230-1317T>G (n.230-1317T>G)
c.*1477T>G (n.*1477T>G)
c.954T>G (p.Ser318Arg)
c.543T>G (p.Ser181Arg)
c.483T>G (p.Ser161Arg)
c.1167T>G (p.Ser389Arg)
c.1137T>G (p.Ser379Arg)
c.1011T>G (p.Ser337Arg)
c.*469T>G (n.*469T>G)
16g.27362786T=CA2215169778IL4Rc.1434T= (p.Ser478=)
c.1389T= (p.Ser463=)
c.230-1317T= (n.230-1317T=)
c.*1477T= (n.*1477T=)
c.954T= (p.Ser318=)
c.543T= (p.Ser181=)
c.483T= (p.Ser161=)
c.1167T= (p.Ser389=)
c.1137T= (p.Ser379=)
c.1011T= (p.Ser337=)
c.*469T= (n.*469T=)
16g.27362787C>ACA395298888IL4Rc.1435C>A (p.Pro479Thr)
c.1390C>A (p.Pro464Thr)
c.230-1316C>A (n.230-1316C>A)
c.*1478C>A (n.*1478C>A)
c.955C>A (p.Pro319Thr)
c.544C>A (p.Pro182Thr)
c.484C>A (p.Pro162Thr)
c.1168C>A (p.Pro390Thr)
c.1138C>A (p.Pro380Thr)
c.1012C>A (p.Pro338Thr)
c.*470C>A (n.*470C>A)
gnomAD v4
16g.27362787C=CA2215169779IL4Rc.1435C= (p.Pro479=)
c.1390C= (p.Pro464=)
c.230-1316C= (n.230-1316C=)
c.*1478C= (n.*1478C=)
c.955C= (p.Pro319=)
c.544C= (p.Pro182=)
c.484C= (p.Pro162=)
c.1168C= (p.Pro390=)
c.1138C= (p.Pro380=)
c.1012C= (p.Pro338=)
c.*470C= (n.*470C=)
16g.27362787C>GCA7974563IL4Rc.1435C>G (p.Pro479Ala)
c.1390C>G (p.Pro464Ala)
c.230-1316C>G (n.230-1316C>G)
c.*1478C>G (n.*1478C>G)
c.955C>G (p.Pro319Ala)
c.544C>G (p.Pro182Ala)
c.484C>G (p.Pro162Ala)
c.1168C>G (p.Pro390Ala)
c.1138C>G (p.Pro380Ala)
c.1012C>G (p.Pro338Ala)
c.*470C>G (n.*470C>G)
dbSNP ExAC gnomAD v2 gnomAD v4
16g.27362787C>TCA395298889IL4Rc.1435C>T (p.Pro479Ser)
c.1390C>T (p.Pro464Ser)
c.230-1316C>T (n.230-1316C>T)
c.*1478C>T (n.*1478C>T)
c.955C>T (p.Pro319Ser)
c.544C>T (p.Pro182Ser)
c.484C>T (p.Pro162Ser)
c.1168C>T (p.Pro390Ser)
c.1138C>T (p.Pro380Ser)
c.1012C>T (p.Pro338Ser)
c.*470C>T (n.*470C>T)
16g.27362788C>ACA395298890IL4Rc.1436C>A (p.Pro479Gln)
c.1391C>A (p.Pro464Gln)
c.230-1315C>A (n.230-1315C>A)
c.*1479C>A (n.*1479C>A)
c.956C>A (p.Pro319Gln)
c.545C>A (p.Pro182Gln)
c.485C>A (p.Pro162Gln)
c.1169C>A (p.Pro390Gln)
c.1139C>A (p.Pro380Gln)
c.1013C>A (p.Pro338Gln)
c.*471C>A (n.*471C>A)
16g.27362788C=CA2215169780IL4Rc.1436C= (p.Pro479=)
c.1391C= (p.Pro464=)
c.230-1315C= (n.230-1315C=)
c.*1479C= (n.*1479C=)
c.956C= (p.Pro319=)
c.545C= (p.Pro182=)
c.485C= (p.Pro162=)
c.1169C= (p.Pro390=)
c.1139C= (p.Pro380=)
c.1013C= (p.Pro338=)
c.*471C= (n.*471C=)
16g.27362788C>GCA395298891IL4Rc.1436C>G (p.Pro479Arg)
c.1391C>G (p.Pro464Arg)
c.230-1315C>G (n.230-1315C>G)
c.*1479C>G (n.*1479C>G)
c.956C>G (p.Pro319Arg)
c.545C>G (p.Pro182Arg)
c.485C>G (p.Pro162Arg)
c.1169C>G (p.Pro390Arg)
c.1139C>G (p.Pro380Arg)
c.1013C>G (p.Pro338Arg)
c.*471C>G (n.*471C>G)
16g.27362788C>TCA395298892IL4Rc.1436C>T (p.Pro479Leu)
c.1391C>T (p.Pro464Leu)
c.230-1315C>T (n.230-1315C>T)
c.*1479C>T (n.*1479C>T)
c.956C>T (p.Pro319Leu)
c.545C>T (p.Pro182Leu)
c.485C>T (p.Pro162Leu)
c.1169C>T (p.Pro390Leu)
c.1139C>T (p.Pro380Leu)
c.1013C>T (p.Pro338Leu)
c.*471C>T (n.*471C>T)
dbSNP gnomAD v2 gnomAD v4
16g.27362789A=CA2215169782IL4Rc.1437A= (p.Pro479=)
c.1392A= (p.Pro464=)
c.230-1314A= (n.230-1314A=)
c.*1480A= (n.*1480A=)
c.957A= (p.Pro319=)
c.546A= (p.Pro182=)
c.486A= (p.Pro162=)
c.1170A= (p.Pro390=)
c.1140A= (p.Pro380=)
c.1014A= (p.Pro338=)
c.*472A= (n.*472A=)
16g.27362789A>CCA494470675IL4Rc.1437A>C (p.Pro479=)
c.1392A>C (p.Pro464=)
c.230-1314A>C (n.230-1314A>C)
c.*1480A>C (n.*1480A>C)
c.957A>C (p.Pro319=)
c.546A>C (p.Pro182=)
c.486A>C (p.Pro162=)
c.1170A>C (p.Pro390=)
c.1140A>C (p.Pro380=)
c.1014A>C (p.Pro338=)
c.*472A>C (n.*472A>C)
16g.27362789A>GCA7974564IL4Rc.1437A>G (p.Pro479=)
c.1392A>G (p.Pro464=)
c.230-1314A>G (n.230-1314A>G)
c.*1480A>G (n.*1480A>G)
c.957A>G (p.Pro319=)
c.546A>G (p.Pro182=)
c.486A>G (p.Pro162=)
c.1170A>G (p.Pro390=)
c.1140A>G (p.Pro380=)
c.1014A>G (p.Pro338=)
c.*472A>G (n.*472A>G)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.27362789A>TCA494470678IL4Rc.1437A>T (p.Pro479=)
c.1392A>T (p.Pro464=)
c.230-1314A>T (n.230-1314A>T)
c.*1480A>T (n.*1480A>T)
c.957A>T (p.Pro319=)
c.546A>T (p.Pro182=)
c.486A>T (p.Pro162=)
c.1170A>T (p.Pro390=)
c.1140A>T (p.Pro380=)
c.1014A>T (p.Pro338=)
c.*472A>T (n.*472A>T)
16g.27362790G>ACA395298895IL4Rc.1438G>A (p.Asp480Asn)
c.1393G>A (p.Asp465Asn)
c.230-1313G>A (n.230-1313G>A)
c.*1481G>A (n.*1481G>A)
c.958G>A (p.Asp320Asn)
c.547G>A (p.Asp183Asn)
c.487G>A (p.Asp163Asn)
c.1171G>A (p.Asp391Asn)
c.1141G>A (p.Asp381Asn)
c.1015G>A (p.Asp339Asn)
c.*473G>A (n.*473G>A)
16g.27362790G>CCA395298894IL4Rc.1438G>C (p.Asp480His)
c.1393G>C (p.Asp465His)
c.230-1313G>C (n.230-1313G>C)
c.*1481G>C (n.*1481G>C)
c.958G>C (p.Asp320His)
c.547G>C (p.Asp183His)
c.487G>C (p.Asp163His)
c.1171G>C (p.Asp391His)
c.1141G>C (p.Asp381His)
c.1015G>C (p.Asp339His)
c.*473G>C (n.*473G>C)
16g.27362790G>TCA395298893IL4Rc.1438G>T (p.Asp480Tyr)
c.1393G>T (p.Asp465Tyr)
c.230-1313G>T (n.230-1313G>T)
c.*1481G>T (n.*1481G>T)
c.958G>T (p.Asp320Tyr)
c.547G>T (p.Asp183Tyr)
c.487G>T (p.Asp163Tyr)
c.1171G>T (p.Asp391Tyr)
c.1141G>T (p.Asp381Tyr)
c.1015G>T (p.Asp339Tyr)
c.*473G>T (n.*473G>T)
COSMIC
16g.27362791A=CA2215169786IL4Rc.1439A= (p.Asp480=)
c.1394A= (p.Asp465=)
c.230-1312A= (n.230-1312A=)
c.*1482A= (n.*1482A=)
c.959A= (p.Asp320=)
c.548A= (p.Asp183=)
c.488A= (p.Asp163=)
c.1172A= (p.Asp391=)
c.1142A= (p.Asp381=)
c.1016A= (p.Asp339=)
c.*474A= (n.*474A=)
16g.27362791A>CCA395298896IL4Rc.1439A>C (p.Asp480Ala)
c.1394A>C (p.Asp465Ala)
c.230-1312A>C (n.230-1312A>C)
c.*1482A>C (n.*1482A>C)
c.959A>C (p.Asp320Ala)
c.548A>C (p.Asp183Ala)
c.488A>C (p.Asp163Ala)
c.1172A>C (p.Asp391Ala)
c.1142A>C (p.Asp381Ala)
c.1016A>C (p.Asp339Ala)
c.*474A>C (n.*474A>C)
16g.27362791A>GCA279686881IL4Rc.1439A>G (p.Asp480Gly)
c.1394A>G (p.Asp465Gly)
c.230-1312A>G (n.230-1312A>G)
c.*1482A>G (n.*1482A>G)
c.959A>G (p.Asp320Gly)
c.548A>G (p.Asp183Gly)
c.488A>G (p.Asp163Gly)
c.1172A>G (p.Asp391Gly)
c.1142A>G (p.Asp381Gly)
c.1016A>G (p.Asp339Gly)
c.*474A>G (n.*474A>G)
ClinVar dbSNP gnomAD v3 gnomAD v4
16g.27362791A>TCA395298897IL4Rc.1439A>T (p.Asp480Val)
c.1394A>T (p.Asp465Val)
c.230-1312A>T (n.230-1312A>T)
c.*1482A>T (n.*1482A>T)
c.959A>T (p.Asp320Val)
c.548A>T (p.Asp183Val)
c.488A>T (p.Asp163Val)
c.1172A>T (p.Asp391Val)
c.1142A>T (p.Asp381Val)
c.1016A>T (p.Asp339Val)
c.*474A>T (n.*474A>T)
16g.27362792C>ACA395298898IL4Rc.1440C>A (p.Asp480Glu)
c.1395C>A (p.Asp465Glu)
c.230-1311C>A (n.230-1311C>A)
c.*1483C>A (n.*1483C>A)
c.960C>A (p.Asp320Glu)
c.549C>A (p.Asp183Glu)
c.489C>A (p.Asp163Glu)
c.1173C>A (p.Asp391Glu)
c.1143C>A (p.Asp381Glu)
c.1017C>A (p.Asp339Glu)
c.*475C>A (n.*475C>A)
16g.27362792C>GCA395298899IL4Rc.1440C>G (p.Asp480Glu)
c.1395C>G (p.Asp465Glu)
c.230-1311C>G (n.230-1311C>G)
c.*1483C>G (n.*1483C>G)
c.960C>G (p.Asp320Glu)
c.549C>G (p.Asp183Glu)
c.489C>G (p.Asp163Glu)
c.1173C>G (p.Asp391Glu)
c.1143C>G (p.Asp381Glu)
c.1017C>G (p.Asp339Glu)
c.*475C>G (n.*475C>G)
16g.27362792C>TCA494470682IL4Rc.1440C>T (p.Asp480=)
c.1395C>T (p.Asp465=)
c.230-1311C>T (n.230-1311C>T)
c.*1483C>T (n.*1483C>T)
c.960C>T (p.Asp320=)
c.549C>T (p.Asp183=)
c.489C>T (p.Asp163=)
c.1173C>T (p.Asp391=)
c.1143C>T (p.Asp381=)
c.1017C>T (p.Asp339=)
c.*475C>T (n.*475C>T)
16g.27362793A>CCA395298900IL4Rc.1441A>C (p.Asn481His)
c.1396A>C (p.Asn466His)
c.230-1310A>C (n.230-1310A>C)
c.*1484A>C (n.*1484A>C)
c.961A>C (p.Asn321His)
c.550A>C (p.Asn184His)
c.490A>C (p.Asn164His)
c.1174A>C (p.Asn392His)
c.1144A>C (p.Asn382His)
c.1018A>C (p.Asn340His)
c.*476A>C (n.*476A>C)
16g.27362793A>GCA395298901IL4Rc.1441A>G (p.Asn481Asp)
c.1396A>G (p.Asn466Asp)
c.230-1310A>G (n.230-1310A>G)
c.*1484A>G (n.*1484A>G)
c.961A>G (p.Asn321Asp)
c.550A>G (p.Asn184Asp)
c.490A>G (p.Asn164Asp)
c.1174A>G (p.Asn392Asp)
c.1144A>G (p.Asn382Asp)
c.1018A>G (p.Asn340Asp)
c.*476A>G (n.*476A>G)
16g.27362793A>TCA395298902IL4Rc.1441A>T (p.Asn481Tyr)
c.1396A>T (p.Asn466Tyr)
c.230-1310A>T (n.230-1310A>T)
c.*1484A>T (n.*1484A>T)
c.961A>T (p.Asn321Tyr)
c.550A>T (p.Asn184Tyr)
c.490A>T (p.Asn164Tyr)
c.1174A>T (p.Asn392Tyr)
c.1144A>T (p.Asn382Tyr)
c.1018A>T (p.Asn340Tyr)
c.*476A>T (n.*476A>T)
16g.27362794A>CCA395298903IL4Rc.1442A>C (p.Asn481Thr)
c.1397A>C (p.Asn466Thr)
c.230-1309A>C (n.230-1309A>C)
c.*1485A>C (n.*1485A>C)
c.962A>C (p.Asn321Thr)
c.551A>C (p.Asn184Thr)
c.491A>C (p.Asn164Thr)
c.1175A>C (p.Asn392Thr)
c.1145A>C (p.Asn382Thr)
c.1019A>C (p.Asn340Thr)
c.*477A>C (n.*477A>C)
16g.27362794A>GCA395298904IL4Rc.1442A>G (p.Asn481Ser)
c.1397A>G (p.Asn466Ser)
c.230-1309A>G (n.230-1309A>G)
c.*1485A>G (n.*1485A>G)
c.962A>G (p.Asn321Ser)
c.551A>G (p.Asn184Ser)
c.491A>G (p.Asn164Ser)
c.1175A>G (p.Asn392Ser)
c.1145A>G (p.Asn382Ser)
c.1019A>G (p.Asn340Ser)
c.*477A>G (n.*477A>G)
16g.27362794A>TCA395298905IL4Rc.1442A>T (p.Asn481Ile)
c.1397A>T (p.Asn466Ile)
c.230-1309A>T (n.230-1309A>T)
c.*1485A>T (n.*1485A>T)
c.962A>T (p.Asn321Ile)
c.551A>T (p.Asn184Ile)
c.491A>T (p.Asn164Ile)
c.1175A>T (p.Asn392Ile)
c.1145A>T (p.Asn382Ile)
c.1019A>T (p.Asn340Ile)
c.*477A>T (n.*477A>T)
16g.27362795C>ACA395298906IL4Rc.1443C>A (p.Asn481Lys)
c.1398C>A (p.Asn466Lys)
c.230-1308C>A (n.230-1308C>A)
c.*1486C>A (n.*1486C>A)
c.963C>A (p.Asn321Lys)
c.552C>A (p.Asn184Lys)
c.492C>A (p.Asn164Lys)
c.1176C>A (p.Asn392Lys)
c.1146C>A (p.Asn382Lys)
c.1020C>A (p.Asn340Lys)
c.*478C>A (n.*478C>A)
16g.27362795C=CA2215169789IL4Rc.1443C= (p.Asn481=)
c.1398C= (p.Asn466=)
c.230-1308C= (n.230-1308C=)
c.*1486C= (n.*1486C=)
c.963C= (p.Asn321=)
c.552C= (p.Asn184=)
c.492C= (p.Asn164=)
c.1176C= (p.Asn392=)
c.1146C= (p.Asn382=)
c.1020C= (p.Asn340=)
c.*478C= (n.*478C=)
16g.27362795C>GCA395298907IL4Rc.1443C>G (p.Asn481Lys)
c.1398C>G (p.Asn466Lys)
c.230-1308C>G (n.230-1308C>G)
c.*1486C>G (n.*1486C>G)
c.963C>G (p.Asn321Lys)
c.552C>G (p.Asn184Lys)
c.492C>G (p.Asn164Lys)
c.1176C>G (p.Asn392Lys)
c.1146C>G (p.Asn382Lys)
c.1020C>G (p.Asn340Lys)
c.*478C>G (n.*478C>G)
16g.27362795C>TCA494470687IL4Rc.1443C>T (p.Asn481=)
c.1398C>T (p.Asn466=)
c.230-1308C>T (n.230-1308C>T)
c.*1486C>T (n.*1486C>T)
c.963C>T (p.Asn321=)
c.552C>T (p.Asn184=)
c.492C>T (p.Asn164=)
c.1176C>T (p.Asn392=)
c.1146C>T (p.Asn382=)
c.1020C>T (p.Asn340=)
c.*478C>T (n.*478C>T)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
16g.27362796C>ACA395298908IL4Rc.1444C>A (p.Leu482Met)
c.1399C>A (p.Leu467Met)
c.230-1307C>A (n.230-1307C>A)
c.*1487C>A (n.*1487C>A)
c.964C>A (p.Leu322Met)
c.553C>A (p.Leu185Met)
c.493C>A (p.Leu165Met)
c.1177C>A (p.Leu393Met)
c.1147C>A (p.Leu383Met)
c.1021C>A (p.Leu341Met)
c.*479C>A (n.*479C>A)
16g.27362796C=CA2215169792IL4Rc.1444C= (p.Leu482=)
c.1399C= (p.Leu467=)
c.230-1307C= (n.230-1307C=)
c.*1487C= (n.*1487C=)
c.964C= (p.Leu322=)
c.553C= (p.Leu185=)
c.493C= (p.Leu165=)
c.1177C= (p.Leu393=)
c.1147C= (p.Leu383=)
c.1021C= (p.Leu341=)
c.*479C= (n.*479C=)
16g.27362796C>GCA395298909IL4Rc.1444C>G (p.Leu482Val)
c.1399C>G (p.Leu467Val)
c.230-1307C>G (n.230-1307C>G)
c.*1487C>G (n.*1487C>G)
c.964C>G (p.Leu322Val)
c.553C>G (p.Leu185Val)
c.493C>G (p.Leu165Val)
c.1177C>G (p.Leu393Val)
c.1147C>G (p.Leu383Val)
c.1021C>G (p.Leu341Val)
c.*479C>G (n.*479C>G)
gnomAD v4
16g.27362796C>TCA494470689IL4Rc.1444C>T (p.Leu482=)
c.1399C>T (p.Leu467=)
c.230-1307C>T (n.230-1307C>T)
c.*1487C>T (n.*1487C>T)
c.964C>T (p.Leu322=)
c.553C>T (p.Leu185=)
c.493C>T (p.Leu165=)
c.1177C>T (p.Leu393=)
c.1147C>T (p.Leu383=)
c.1021C>T (p.Leu341=)
c.*479C>T (n.*479C>T)
dbSNP gnomAD v3 gnomAD v4
16g.27362797T>ACA395298910IL4Rc.1445T>A (p.Leu482Gln)
c.1400T>A (p.Leu467Gln)
c.230-1306T>A (n.230-1306T>A)
c.*1488T>A (n.*1488T>A)
c.965T>A (p.Leu322Gln)
c.554T>A (p.Leu185Gln)
c.494T>A (p.Leu165Gln)
c.1178T>A (p.Leu393Gln)
c.1148T>A (p.Leu383Gln)
c.1022T>A (p.Leu341Gln)
c.*480T>A (n.*480T>A)
dbSNP gnomAD v4
16g.27362797T>CCA395298912IL4Rc.1445T>C (p.Leu482Pro)
c.1400T>C (p.Leu467Pro)
c.230-1306T>C (n.230-1306T>C)
c.*1488T>C (n.*1488T>C)
c.965T>C (p.Leu322Pro)
c.554T>C (p.Leu185Pro)
c.494T>C (p.Leu165Pro)
c.1178T>C (p.Leu393Pro)
c.1148T>C (p.Leu383Pro)
c.1022T>C (p.Leu341Pro)
c.*480T>C (n.*480T>C)
16g.27362797T>GCA395298911IL4Rc.1445T>G (p.Leu482Arg)
c.1400T>G (p.Leu467Arg)
c.230-1306T>G (n.230-1306T>G)
c.*1488T>G (n.*1488T>G)
c.965T>G (p.Leu322Arg)
c.554T>G (p.Leu185Arg)
c.494T>G (p.Leu165Arg)
c.1178T>G (p.Leu393Arg)
c.1148T>G (p.Leu383Arg)
c.1022T>G (p.Leu341Arg)
c.*480T>G (n.*480T>G)
16g.27362797T=CA2215169795IL4Rc.1445T= (p.Leu482=)
c.1400T= (p.Leu467=)
c.230-1306T= (n.230-1306T=)
c.*1488T= (n.*1488T=)
c.965T= (p.Leu322=)
c.554T= (p.Leu185=)
c.494T= (p.Leu165=)
c.1178T= (p.Leu393=)
c.1148T= (p.Leu383=)
c.1022T= (p.Leu341=)
c.*480T= (n.*480T=)
16g.27362798G>ACA494470691IL4Rc.1446G>A (p.Leu482=)
c.1401G>A (p.Leu467=)
c.230-1305G>A (n.230-1305G>A)
c.*1489G>A (n.*1489G>A)
c.966G>A (p.Leu322=)
c.555G>A (p.Leu185=)
c.495G>A (p.Leu165=)
c.1179G>A (p.Leu393=)
c.1149G>A (p.Leu383=)
c.1023G>A (p.Leu341=)
c.*481G>A (n.*481G>A)
16g.27362798G>CCA494470692IL4Rc.1446G>C (p.Leu482=)
c.1401G>C (p.Leu467=)
c.230-1305G>C (n.230-1305G>C)
c.*1489G>C (n.*1489G>C)
c.966G>C (p.Leu322=)
c.555G>C (p.Leu185=)
c.495G>C (p.Leu165=)
c.1179G>C (p.Leu393=)
c.1149G>C (p.Leu383=)
c.1023G>C (p.Leu341=)
c.*481G>C (n.*481G>C)
16g.27362798G>TCA494470693IL4Rc.1446G>T (p.Leu482=)
c.1401G>T (p.Leu467=)
c.230-1305G>T (n.230-1305G>T)
c.*1489G>T (n.*1489G>T)
c.966G>T (p.Leu322=)
c.555G>T (p.Leu185=)
c.495G>T (p.Leu165=)
c.1179G>T (p.Leu393=)
c.1149G>T (p.Leu383=)
c.1023G>T (p.Leu341=)
c.*481G>T (n.*481G>T)
16g.27362799A=CA2215169796IL4Rc.1447A= (p.Thr483=)
c.1402A= (p.Thr468=)
c.230-1304A= (n.230-1304A=)
c.*1490A= (n.*1490A=)
c.967A= (p.Thr323=)
c.556A= (p.Thr186=)
c.496A= (p.Thr166=)
c.1180A= (p.Thr394=)
c.1150A= (p.Thr384=)
c.1024A= (p.Thr342=)
c.*482A= (n.*482A=)
16g.27362799A>CCA395298913IL4Rc.1447A>C (p.Thr483Pro)
c.1402A>C (p.Thr468Pro)
c.230-1304A>C (n.230-1304A>C)
c.*1490A>C (n.*1490A>C)
c.967A>C (p.Thr323Pro)
c.556A>C (p.Thr186Pro)
c.496A>C (p.Thr166Pro)
c.1180A>C (p.Thr394Pro)
c.1150A>C (p.Thr384Pro)
c.1024A>C (p.Thr342Pro)
c.*482A>C (n.*482A>C)
16g.27362799A>GCA395298914IL4Rc.1447A>G (p.Thr483Ala)
c.1402A>G (p.Thr468Ala)
c.230-1304A>G (n.230-1304A>G)
c.*1490A>G (n.*1490A>G)
c.967A>G (p.Thr323Ala)
c.556A>G (p.Thr186Ala)
c.496A>G (p.Thr166Ala)
c.1180A>G (p.Thr394Ala)
c.1150A>G (p.Thr384Ala)
c.1024A>G (p.Thr342Ala)
c.*482A>G (n.*482A>G)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
16g.27362799A>TCA395298915IL4Rc.1447A>T (p.Thr483Ser)
c.1402A>T (p.Thr468Ser)
c.230-1304A>T (n.230-1304A>T)
c.*1490A>T (n.*1490A>T)
c.967A>T (p.Thr323Ser)
c.556A>T (p.Thr186Ser)
c.496A>T (p.Thr166Ser)
c.1180A>T (p.Thr394Ser)
c.1150A>T (p.Thr384Ser)
c.1024A>T (p.Thr342Ser)
c.*482A>T (n.*482A>T)
16g.27362800C>ACA395298916IL4Rc.1448C>A (p.Thr483Asn)
c.1403C>A (p.Thr468Asn)
c.230-1303C>A (n.230-1303C>A)
c.*1491C>A (n.*1491C>A)
c.968C>A (p.Thr323Asn)
c.557C>A (p.Thr186Asn)
c.497C>A (p.Thr166Asn)
c.1181C>A (p.Thr394Asn)
c.1151C>A (p.Thr384Asn)
c.1025C>A (p.Thr342Asn)
c.*483C>A (n.*483C>A)
16g.27362800C>GCA395298917IL4Rc.1448C>G (p.Thr483Ser)
c.1403C>G (p.Thr468Ser)
c.230-1303C>G (n.230-1303C>G)
c.*1491C>G (n.*1491C>G)
c.968C>G (p.Thr323Ser)
c.557C>G (p.Thr186Ser)
c.497C>G (p.Thr166Ser)
c.1181C>G (p.Thr394Ser)
c.1151C>G (p.Thr384Ser)
c.1025C>G (p.Thr342Ser)
c.*483C>G (n.*483C>G)
16g.27362800C>TCA395298918IL4Rc.1448C>T (p.Thr483Ile)
c.1403C>T (p.Thr468Ile)
c.230-1303C>T (n.230-1303C>T)
c.*1491C>T (n.*1491C>T)
c.968C>T (p.Thr323Ile)
c.557C>T (p.Thr186Ile)
c.497C>T (p.Thr166Ile)
c.1181C>T (p.Thr394Ile)
c.1151C>T (p.Thr384Ile)
c.1025C>T (p.Thr342Ile)
c.*483C>T (n.*483C>T)
16g.27362801T>ACA494470705IL4Rc.1449T>A (p.Thr483=)
c.1404T>A (p.Thr468=)
c.230-1302T>A (n.230-1302T>A)
c.*1492T>A (n.*1492T>A)
c.969T>A (p.Thr323=)
c.558T>A (p.Thr186=)
c.498T>A (p.Thr166=)
c.1182T>A (p.Thr394=)
c.1152T>A (p.Thr384=)
c.1026T>A (p.Thr342=)
c.*484T>A (n.*484T>A)
16g.27362801T>CCA494470704IL4Rc.1449T>C (p.Thr483=)
c.1404T>C (p.Thr468=)
c.230-1302T>C (n.230-1302T>C)
c.*1492T>C (n.*1492T>C)
c.969T>C (p.Thr323=)
c.558T>C (p.Thr186=)
c.498T>C (p.Thr166=)
c.1182T>C (p.Thr394=)
c.1152T>C (p.Thr384=)
c.1026T>C (p.Thr342=)
c.*484T>C (n.*484T>C)
gnomAD v4
16g.27362801T>GCA494470703IL4Rc.1449T>G (p.Thr483=)
c.1404T>G (p.Thr468=)
c.230-1302T>G (n.230-1302T>G)
c.*1492T>G (n.*1492T>G)
c.969T>G (p.Thr323=)
c.558T>G (p.Thr186=)
c.498T>G (p.Thr166=)
c.1182T>G (p.Thr394=)
c.1152T>G (p.Thr384=)
c.1026T>G (p.Thr342=)
c.*484T>G (n.*484T>G)
COSMIC
16g.27362802T>ACA395298920IL4Rc.1450T>A (p.Cys484Ser)
c.1405T>A (p.Cys469Ser)
c.230-1301T>A (n.230-1301T>A)
c.*1493T>A (n.*1493T>A)
c.970T>A (p.Cys324Ser)
c.559T>A (p.Cys187Ser)
c.499T>A (p.Cys167Ser)
c.1183T>A (p.Cys395Ser)
c.1153T>A (p.Cys385Ser)
c.1027T>A (p.Cys343Ser)
c.*485T>A (n.*485T>A)
16g.27362802T>CCA7974565IL4Rc.1450T>C (p.Cys484Arg)
c.1405T>C (p.Cys469Arg)
c.230-1301T>C (n.230-1301T>C)
c.*1493T>C (n.*1493T>C)
c.970T>C (p.Cys324Arg)
c.559T>C (p.Cys187Arg)
c.499T>C (p.Cys167Arg)
c.1183T>C (p.Cys395Arg)
c.1153T>C (p.Cys385Arg)
c.1027T>C (p.Cys343Arg)
c.*485T>C (n.*485T>C)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.27362802T>GCA395298919IL4Rc.1450T>G (p.Cys484Gly)
c.1405T>G (p.Cys469Gly)
c.230-1301T>G (n.230-1301T>G)
c.*1493T>G (n.*1493T>G)
c.970T>G (p.Cys324Gly)
c.559T>G (p.Cys187Gly)
c.499T>G (p.Cys167Gly)
c.1183T>G (p.Cys395Gly)
c.1153T>G (p.Cys385Gly)
c.1027T>G (p.Cys343Gly)
c.*485T>G (n.*485T>G)
16g.27362802T=CA2215169797IL4Rc.1450T= (p.Cys484=)
c.1405T= (p.Cys469=)
c.230-1301T= (n.230-1301T=)
c.*1493T= (n.*1493T=)
c.970T= (p.Cys324=)
c.559T= (p.Cys187=)
c.499T= (p.Cys167=)
c.1183T= (p.Cys395=)
c.1153T= (p.Cys385=)
c.1027T= (p.Cys343=)
c.*485T= (n.*485T=)
16g.27362803G>ACA395298921IL4Rc.1451G>A (p.Cys484Tyr)
c.1406G>A (p.Cys469Tyr)
c.230-1300G>A (n.230-1300G>A)
c.*1494G>A (n.*1494G>A)
c.971G>A (p.Cys324Tyr)
c.560G>A (p.Cys187Tyr)
c.500G>A (p.Cys167Tyr)
c.1184G>A (p.Cys395Tyr)
c.1154G>A (p.Cys385Tyr)
c.1028G>A (p.Cys343Tyr)
c.*486G>A (n.*486G>A)
16g.27362803G>CCA395298922IL4Rc.1451G>C (p.Cys484Ser)
c.1406G>C (p.Cys469Ser)
c.230-1300G>C (n.230-1300G>C)
c.*1494G>C (n.*1494G>C)
c.971G>C (p.Cys324Ser)
c.560G>C (p.Cys187Ser)
c.500G>C (p.Cys167Ser)
c.1184G>C (p.Cys395Ser)
c.1154G>C (p.Cys385Ser)
c.1028G>C (p.Cys343Ser)
c.*486G>C (n.*486G>C)
16g.27362803G=CA2215169798IL4Rc.1451G= (p.Cys484=)
c.1406G= (p.Cys469=)
c.230-1300G= (n.230-1300G=)
c.*1494G= (n.*1494G=)
c.971G= (p.Cys324=)
c.560G= (p.Cys187=)
c.500G= (p.Cys167=)
c.1184G= (p.Cys395=)
c.1154G= (p.Cys385=)
c.1028G= (p.Cys343=)
c.*486G= (n.*486G=)
16g.27362803G>TCA7974566IL4Rc.1451G>T (p.Cys484Phe)
c.1406G>T (p.Cys469Phe)
c.230-1300G>T (n.230-1300G>T)
c.*1494G>T (n.*1494G>T)
c.971G>T (p.Cys324Phe)
c.560G>T (p.Cys187Phe)
c.500G>T (p.Cys167Phe)
c.1184G>T (p.Cys395Phe)
c.1154G>T (p.Cys385Phe)
c.1028G>T (p.Cys343Phe)
c.*486G>T (n.*486G>T)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.27362804C>ACA395298923IL4Rc.1452C>A (p.Cys484Ter)
c.1407C>A (p.Cys469Ter)
c.230-1299C>A (n.230-1299C>A)
c.*1495C>A (n.*1495C>A)
c.972C>A (p.Cys324Ter)
c.561C>A (p.Cys187Ter)
c.501C>A (p.Cys167Ter)
c.1185C>A (p.Cys395Ter)
c.1155C>A (p.Cys385Ter)
c.1029C>A (p.Cys343Ter)
c.*487C>A (n.*487C>A)
16g.27362804C>GCA395298924IL4Rc.1452C>G (p.Cys484Trp)
c.1407C>G (p.Cys469Trp)
c.230-1299C>G (n.230-1299C>G)
c.*1495C>G (n.*1495C>G)
c.972C>G (p.Cys324Trp)
c.561C>G (p.Cys187Trp)
c.501C>G (p.Cys167Trp)
c.1185C>G (p.Cys395Trp)
c.1155C>G (p.Cys385Trp)
c.1029C>G (p.Cys343Trp)
c.*487C>G (n.*487C>G)
gnomAD v4
16g.27362804C>TCA494470709IL4Rc.1452C>T (p.Cys484=)
c.1407C>T (p.Cys469=)
c.230-1299C>T (n.230-1299C>T)
c.*1495C>T (n.*1495C>T)
c.972C>T (p.Cys324=)
c.561C>T (p.Cys187=)
c.501C>T (p.Cys167=)
c.1185C>T (p.Cys395=)
c.1155C>T (p.Cys385=)
c.1029C>T (p.Cys343=)
c.*487C>T (n.*487C>T)
16g.27362805A=CA2215169800IL4Rc.1453A= (p.Thr485=)
c.1408A= (p.Thr470=)
c.230-1298A= (n.230-1298A=)
c.*1496A= (n.*1496A=)
c.973A= (p.Thr325=)
c.562A= (p.Thr188=)
c.502A= (p.Thr168=)
c.1186A= (p.Thr396=)
c.1156A= (p.Thr386=)
c.1030A= (p.Thr344=)
c.*488A= (n.*488A=)
16g.27362805A>CCA395298925IL4Rc.1453A>C (p.Thr485Pro)
c.1408A>C (p.Thr470Pro)
c.230-1298A>C (n.230-1298A>C)
c.*1496A>C (n.*1496A>C)
c.973A>C (p.Thr325Pro)
c.562A>C (p.Thr188Pro)
c.502A>C (p.Thr168Pro)
c.1186A>C (p.Thr396Pro)
c.1156A>C (p.Thr386Pro)
c.1030A>C (p.Thr344Pro)
c.*488A>C (n.*488A>C)
16g.27362805A>GCA395298927IL4Rc.1453A>G (p.Thr485Ala)
c.1408A>G (p.Thr470Ala)
c.230-1298A>G (n.230-1298A>G)
c.*1496A>G (n.*1496A>G)
c.973A>G (p.Thr325Ala)
c.562A>G (p.Thr188Ala)
c.502A>G (p.Thr168Ala)
c.1186A>G (p.Thr396Ala)
c.1156A>G (p.Thr386Ala)
c.1030A>G (p.Thr344Ala)
c.*488A>G (n.*488A>G)
dbSNP gnomAD v3 gnomAD v4
16g.27362805A>TCA395298926IL4Rc.1453A>T (p.Thr485Ser)
c.1408A>T (p.Thr470Ser)
c.230-1298A>T (n.230-1298A>T)
c.*1496A>T (n.*1496A>T)
c.973A>T (p.Thr325Ser)
c.562A>T (p.Thr188Ser)
c.502A>T (p.Thr168Ser)
c.1186A>T (p.Thr396Ser)
c.1156A>T (p.Thr386Ser)
c.1030A>T (p.Thr344Ser)
c.*488A>T (n.*488A>T)
16g.27362806C>ACA395298928IL4Rc.1454C>A (p.Thr485Lys)
c.1409C>A (p.Thr470Lys)
c.230-1297C>A (n.230-1297C>A)
c.*1497C>A (n.*1497C>A)
c.974C>A (p.Thr325Lys)
c.563C>A (p.Thr188Lys)
c.503C>A (p.Thr168Lys)
c.1187C>A (p.Thr396Lys)
c.1157C>A (p.Thr386Lys)
c.1031C>A (p.Thr344Lys)
c.*489C>A (n.*489C>A)
gnomAD v4
16g.27362806C>GCA395298929IL4Rc.1454C>G (p.Thr485Arg)
c.1409C>G (p.Thr470Arg)
c.230-1297C>G (n.230-1297C>G)
c.*1497C>G (n.*1497C>G)
c.974C>G (p.Thr325Arg)
c.563C>G (p.Thr188Arg)
c.503C>G (p.Thr168Arg)
c.1187C>G (p.Thr396Arg)
c.1157C>G (p.Thr386Arg)
c.1031C>G (p.Thr344Arg)
c.*489C>G (n.*489C>G)
gnomAD v4
16g.27362806C>TCA395298930IL4Rc.1454C>T (p.Thr485Ile)
c.1409C>T (p.Thr470Ile)
c.230-1297C>T (n.230-1297C>T)
c.*1497C>T (n.*1497C>T)
c.974C>T (p.Thr325Ile)
c.563C>T (p.Thr188Ile)
c.503C>T (p.Thr168Ile)
c.1187C>T (p.Thr396Ile)
c.1157C>T (p.Thr386Ile)
c.1031C>T (p.Thr344Ile)
c.*489C>T (n.*489C>T)
16g.27362807A=CA2215169804IL4Rc.1455A= (p.Thr485=)
c.1410A= (p.Thr470=)
c.230-1296A= (n.230-1296A=)
c.*1498A= (n.*1498A=)
c.975A= (p.Thr325=)
c.564A= (p.Thr188=)
c.504A= (p.Thr168=)
c.1188A= (p.Thr396=)
c.1158A= (p.Thr386=)
c.1032A= (p.Thr344=)
c.*490A= (n.*490A=)
16g.27362807A>CCA494470715IL4Rc.1455A>C (p.Thr485=)
c.1410A>C (p.Thr470=)
c.230-1296A>C (n.230-1296A>C)
c.*1498A>C (n.*1498A>C)
c.975A>C (p.Thr325=)
c.564A>C (p.Thr188=)
c.504A>C (p.Thr168=)
c.1188A>C (p.Thr396=)
c.1158A>C (p.Thr386=)
c.1032A>C (p.Thr344=)
c.*490A>C (n.*490A>C)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
16g.27362807A>GCA494470716IL4Rc.1455A>G (p.Thr485=)
c.1410A>G (p.Thr470=)
c.230-1296A>G (n.230-1296A>G)
c.*1498A>G (n.*1498A>G)
c.975A>G (p.Thr325=)
c.564A>G (p.Thr188=)
c.504A>G (p.Thr168=)
c.1188A>G (p.Thr396=)
c.1158A>G (p.Thr386=)
c.1032A>G (p.Thr344=)
c.*490A>G (n.*490A>G)
16g.27362807A>TCA494470718IL4Rc.1455A>T (p.Thr485=)
c.1410A>T (p.Thr470=)
c.230-1296A>T (n.230-1296A>T)
c.*1498A>T (n.*1498A>T)
c.975A>T (p.Thr325=)
c.564A>T (p.Thr188=)
c.504A>T (p.Thr168=)
c.1188A>T (p.Thr396=)
c.1158A>T (p.Thr386=)
c.1032A>T (p.Thr344=)
c.*490A>T (n.*490A>T)
16g.27362808G>ACA395298931IL4Rc.1456G>A (p.Glu486Lys)
c.1411G>A (p.Glu471Lys)
c.230-1295G>A (n.230-1295G>A)
c.*1499G>A (n.*1499G>A)
c.976G>A (p.Glu326Lys)
c.565G>A (p.Glu189Lys)
c.505G>A (p.Glu169Lys)
c.1189G>A (p.Glu397Lys)
c.1159G>A (p.Glu387Lys)
c.1033G>A (p.Glu345Lys)
c.*491G>A (n.*491G>A)
16g.27362808G>CCA395298932IL4Rc.1456G>C (p.Glu486Gln)
c.1411G>C (p.Glu471Gln)
c.230-1295G>C (n.230-1295G>C)
c.*1499G>C (n.*1499G>C)
c.976G>C (p.Glu326Gln)
c.565G>C (p.Glu189Gln)
c.505G>C (p.Glu169Gln)
c.1189G>C (p.Glu397Gln)
c.1159G>C (p.Glu387Gln)
c.1033G>C (p.Glu345Gln)
c.*491G>C (n.*491G>C)
16g.27362808G>TCA395298933IL4Rc.1456G>T (p.Glu486Ter)
c.1411G>T (p.Glu471Ter)
c.230-1295G>T (n.230-1295G>T)
c.*1499G>T (n.*1499G>T)
c.976G>T (p.Glu326Ter)
c.565G>T (p.Glu189Ter)
c.505G>T (p.Glu169Ter)
c.1189G>T (p.Glu397Ter)
c.1159G>T (p.Glu387Ter)
c.1033G>T (p.Glu345Ter)
c.*491G>T (n.*491G>T)
16g.27362809A=CA2215169807IL4Rc.1457A= (p.Glu486=)
c.1412A= (p.Glu471=)
c.230-1294A= (n.230-1294A=)
c.*1500A= (n.*1500A=)
c.977A= (p.Glu326=)
c.566A= (p.Glu189=)
c.506A= (p.Glu169=)
c.1190A= (p.Glu397=)
c.1160A= (p.Glu387=)
c.1034A= (p.Glu345=)
c.*492A= (n.*492A=)
16g.27362809A>CCA395298934IL4Rc.1457A>C (p.Glu486Ala)
c.1412A>C (p.Glu471Ala)
c.230-1294A>C (n.230-1294A>C)
c.*1500A>C (n.*1500A>C)
c.977A>C (p.Glu326Ala)
c.566A>C (p.Glu189Ala)
c.506A>C (p.Glu169Ala)
c.1190A>C (p.Glu397Ala)
c.1160A>C (p.Glu387Ala)
c.1034A>C (p.Glu345Ala)
c.*492A>C (n.*492A>C)
16g.27362809A>GCA279686893IL4Rc.1457A>G (p.Glu486Gly)
c.1412A>G (p.Glu471Gly)
c.230-1294A>G (n.230-1294A>G)
c.*1500A>G (n.*1500A>G)
c.977A>G (p.Glu326Gly)
c.566A>G (p.Glu189Gly)
c.506A>G (p.Glu169Gly)
c.1190A>G (p.Glu397Gly)
c.1160A>G (p.Glu387Gly)
c.1034A>G (p.Glu345Gly)
c.*492A>G (n.*492A>G)
dbSNP
16g.27362809A>TCA395298935IL4Rc.1457A>T (p.Glu486Val)
c.1412A>T (p.Glu471Val)
c.230-1294A>T (n.230-1294A>T)
c.*1500A>T (n.*1500A>T)
c.977A>T (p.Glu326Val)
c.566A>T (p.Glu189Val)
c.506A>T (p.Glu169Val)
c.1190A>T (p.Glu397Val)
c.1160A>T (p.Glu387Val)
c.1034A>T (p.Glu345Val)
c.*492A>T (n.*492A>T)
16g.27362810G>ACA494470725IL4Rc.1458G>A (p.Glu486=)
c.1413G>A (p.Glu471=)
c.230-1293G>A (n.230-1293G>A)
c.*1501G>A (n.*1501G>A)
c.978G>A (p.Glu326=)
c.567G>A (p.Glu189=)
c.507G>A (p.Glu169=)
c.1191G>A (p.Glu397=)
c.1161G>A (p.Glu387=)
c.1035G>A (p.Glu345=)
c.*493G>A (n.*493G>A)
16g.27362810G>CCA395298936IL4Rc.1458G>C (p.Glu486Asp)
c.1413G>C (p.Glu471Asp)
c.230-1293G>C (n.230-1293G>C)
c.*1501G>C (n.*1501G>C)
c.978G>C (p.Glu326Asp)
c.567G>C (p.Glu189Asp)
c.507G>C (p.Glu169Asp)
c.1191G>C (p.Glu397Asp)
c.1161G>C (p.Glu387Asp)
c.1035G>C (p.Glu345Asp)
c.*493G>C (n.*493G>C)
16g.27362810G>TCA395298937IL4Rc.1458G>T (p.Glu486Asp)
c.1413G>T (p.Glu471Asp)
c.230-1293G>T (n.230-1293G>T)
c.*1501G>T (n.*1501G>T)
c.978G>T (p.Glu326Asp)
c.567G>T (p.Glu189Asp)
c.507G>T (p.Glu169Asp)
c.1191G>T (p.Glu397Asp)
c.1161G>T (p.Glu387Asp)
c.1035G>T (p.Glu345Asp)
c.*493G>T (n.*493G>T)
16g.27362811A>CCA395298938IL4Rc.1459A>C (p.Thr487Pro)
c.1414A>C (p.Thr472Pro)
c.230-1292A>C (n.230-1292A>C)
c.*1502A>C (n.*1502A>C)
c.979A>C (p.Thr327Pro)
c.568A>C (p.Thr190Pro)
c.508A>C (p.Thr170Pro)
c.1192A>C (p.Thr398Pro)
c.1162A>C (p.Thr388Pro)
c.1036A>C (p.Thr346Pro)
c.*494A>C (n.*494A>C)
16g.27362811A>GCA395298940IL4Rc.1459A>G (p.Thr487Ala)
c.1414A>G (p.Thr472Ala)
c.230-1292A>G (n.230-1292A>G)
c.*1502A>G (n.*1502A>G)
c.979A>G (p.Thr327Ala)
c.568A>G (p.Thr190Ala)
c.508A>G (p.Thr170Ala)
c.1192A>G (p.Thr398Ala)
c.1162A>G (p.Thr388Ala)
c.1036A>G (p.Thr346Ala)
c.*494A>G (n.*494A>G)
gnomAD v4
16g.27362811A>TCA395298939IL4Rc.1459A>T (p.Thr487Ser)
c.1414A>T (p.Thr472Ser)
c.230-1292A>T (n.230-1292A>T)
c.*1502A>T (n.*1502A>T)
c.979A>T (p.Thr327Ser)
c.568A>T (p.Thr190Ser)
c.508A>T (p.Thr170Ser)
c.1192A>T (p.Thr398Ser)
c.1162A>T (p.Thr388Ser)
c.1036A>T (p.Thr346Ser)
c.*494A>T (n.*494A>T)
16g.27362812C>ACA395298941IL4Rc.1460C>A (p.Thr487Lys)
c.1415C>A (p.Thr472Lys)
c.230-1291C>A (n.230-1291C>A)
c.*1503C>A (n.*1503C>A)
c.980C>A (p.Thr327Lys)
c.569C>A (p.Thr190Lys)
c.509C>A (p.Thr170Lys)
c.1193C>A (p.Thr398Lys)
c.1163C>A (p.Thr388Lys)
c.1037C>A (p.Thr346Lys)
c.*495C>A (n.*495C>A)
16g.27362812C=CA2215169810IL4Rc.1460C= (p.Thr487=)
c.1415C= (p.Thr472=)
c.230-1291C= (n.230-1291C=)
c.*1503C= (n.*1503C=)
c.980C= (p.Thr327=)
c.569C= (p.Thr190=)
c.509C= (p.Thr170=)
c.1193C= (p.Thr398=)
c.1163C= (p.Thr388=)
c.1037C= (p.Thr346=)
c.*495C= (n.*495C=)
16g.27362812C>GCA395298942IL4Rc.1460C>G (p.Thr487Arg)
c.1415C>G (p.Thr472Arg)
c.230-1291C>G (n.230-1291C>G)
c.*1503C>G (n.*1503C>G)
c.980C>G (p.Thr327Arg)
c.569C>G (p.Thr190Arg)
c.509C>G (p.Thr170Arg)
c.1193C>G (p.Thr398Arg)
c.1163C>G (p.Thr388Arg)
c.1037C>G (p.Thr346Arg)
c.*495C>G (n.*495C>G)
16g.27362812C>TCA7974567IL4Rc.1460C>T (p.Thr487Met)
c.1415C>T (p.Thr472Met)
c.230-1291C>T (n.230-1291C>T)
c.*1503C>T (n.*1503C>T)
c.980C>T (p.Thr327Met)
c.569C>T (p.Thr190Met)
c.509C>T (p.Thr170Met)
c.1193C>T (p.Thr398Met)
c.1163C>T (p.Thr388Met)
c.1037C>T (p.Thr346Met)
c.*495C>T (n.*495C>T)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
16g.27362813G>ACA494470142IL4Rc.1461G>A (p.Thr487=)
c.1416G>A (p.Thr472=)
c.230-1290G>A (n.230-1290G>A)
c.*1504G>A (n.*1504G>A)
c.981G>A (p.Thr327=)
c.570G>A (p.Thr190=)
c.510G>A (p.Thr170=)
c.1194G>A (p.Thr398=)
c.1164G>A (p.Thr388=)
c.1038G>A (p.Thr346=)
c.*496G>A (n.*496G>A)
dbSNP gnomAD v2 gnomAD v4 COSMIC
16g.27362813G>CCA494470143IL4Rc.1461G>C (p.Thr487=)
c.1416G>C (p.Thr472=)
c.230-1290G>C (n.230-1290G>C)
c.*1504G>C (n.*1504G>C)
c.981G>C (p.Thr327=)
c.570G>C (p.Thr190=)
c.510G>C (p.Thr170=)
c.1194G>C (p.Thr398=)
c.1164G>C (p.Thr388=)
c.1038G>C (p.Thr346=)
c.*496G>C (n.*496G>C)
16g.27362813G=CA2215169814IL4Rc.1461G= (p.Thr487=)
c.1416G= (p.Thr472=)
c.230-1290G= (n.230-1290G=)
c.*1504G= (n.*1504G=)
c.981G= (p.Thr327=)
c.570G= (p.Thr190=)
c.510G= (p.Thr170=)
c.1194G= (p.Thr398=)
c.1164G= (p.Thr388=)
c.1038G= (p.Thr346=)
c.*496G= (n.*496G=)
16g.27362813G>TCA494470144IL4Rc.1461G>T (p.Thr487=)
c.1416G>T (p.Thr472=)
c.230-1290G>T (n.230-1290G>T)
c.*1504G>T (n.*1504G>T)
c.981G>T (p.Thr327=)
c.570G>T (p.Thr190=)
c.510G>T (p.Thr170=)
c.1194G>T (p.Thr398=)
c.1164G>T (p.Thr388=)
c.1038G>T (p.Thr346=)
c.*496G>T (n.*496G>T)
dbSNP gnomAD v4
16g.27362814C>ACA395298943IL4Rc.1462C>A (p.Pro488Thr)
c.1417C>A (p.Pro473Thr)
c.230-1289C>A (n.230-1289C>A)
c.*1505C>A (n.*1505C>A)
c.982C>A (p.Pro328Thr)
c.571C>A (p.Pro191Thr)
c.511C>A (p.Pro171Thr)
c.1195C>A (p.Pro399Thr)
c.1165C>A (p.Pro389Thr)
c.1039C>A (p.Pro347Thr)
c.*497C>A (n.*497C>A)
16g.27362814C=CA2215169815IL4Rc.1462C= (p.Pro488=)
c.1417C= (p.Pro473=)
c.230-1289C= (n.230-1289C=)
c.*1505C= (n.*1505C=)
c.982C= (p.Pro328=)
c.571C= (p.Pro191=)
c.511C= (p.Pro171=)
c.1195C= (p.Pro399=)
c.1165C= (p.Pro389=)
c.1039C= (p.Pro347=)
c.*497C= (n.*497C=)
16g.27362814C>GCA395298944IL4Rc.1462C>G (p.Pro488Ala)
c.1417C>G (p.Pro473Ala)
c.230-1289C>G (n.230-1289C>G)
c.*1505C>G (n.*1505C>G)
c.982C>G (p.Pro328Ala)
c.571C>G (p.Pro191Ala)
c.511C>G (p.Pro171Ala)
c.1195C>G (p.Pro399Ala)
c.1165C>G (p.Pro389Ala)
c.1039C>G (p.Pro347Ala)
c.*497C>G (n.*497C>G)
16g.27362814C>TCA395298945IL4Rc.1462C>T (p.Pro488Ser)
c.1417C>T (p.Pro473Ser)
c.230-1289C>T (n.230-1289C>T)
c.*1505C>T (n.*1505C>T)
c.982C>T (p.Pro328Ser)
c.571C>T (p.Pro191Ser)
c.511C>T (p.Pro171Ser)
c.1195C>T (p.Pro399Ser)
c.1165C>T (p.Pro389Ser)
c.1039C>T (p.Pro347Ser)
c.*497C>T (n.*497C>T)
dbSNP gnomAD v2 gnomAD v4
16g.27362815C>ACA395298946IL4Rc.1463C>A (p.Pro488His)
c.1418C>A (p.Pro473His)
c.230-1288C>A (n.230-1288C>A)
c.*1506C>A (n.*1506C>A)
c.983C>A (p.Pro328His)
c.572C>A (p.Pro191His)
c.512C>A (p.Pro171His)
c.1196C>A (p.Pro399His)
c.1166C>A (p.Pro389His)
c.1040C>A (p.Pro347His)
c.*498C>A (n.*498C>A)
16g.27362815C>GCA395298947IL4Rc.1463C>G (p.Pro488Arg)
c.1418C>G (p.Pro473Arg)
c.230-1288C>G (n.230-1288C>G)
c.*1506C>G (n.*1506C>G)
c.983C>G (p.Pro328Arg)
c.572C>G (p.Pro191Arg)
c.512C>G (p.Pro171Arg)
c.1196C>G (p.Pro399Arg)
c.1166C>G (p.Pro389Arg)
c.1040C>G (p.Pro347Arg)
c.*498C>G (n.*498C>G)
16g.27362815C>TCA395298948IL4Rc.1463C>T (p.Pro488Leu)
c.1418C>T (p.Pro473Leu)
c.230-1288C>T (n.230-1288C>T)
c.*1506C>T (n.*1506C>T)
c.983C>T (p.Pro328Leu)
c.572C>T (p.Pro191Leu)
c.512C>T (p.Pro171Leu)
c.1196C>T (p.Pro399Leu)
c.1166C>T (p.Pro389Leu)
c.1040C>T (p.Pro347Leu)
c.*498C>T (n.*498C>T)
16g.27362816C>ACA494470145IL4Rc.1464C>A (p.Pro488=)
c.1419C>A (p.Pro473=)
c.230-1287C>A (n.230-1287C>A)
c.*1507C>A (n.*1507C>A)
c.984C>A (p.Pro328=)
c.573C>A (p.Pro191=)
c.513C>A (p.Pro171=)
c.1197C>A (p.Pro399=)
c.1167C>A (p.Pro389=)
c.1041C>A (p.Pro347=)
c.*499C>A (n.*499C>A)
16g.27362816C=CA2215169819IL4Rc.1464C= (p.Pro488=)
c.1419C= (p.Pro473=)
c.230-1287C= (n.230-1287C=)
c.*1507C= (n.*1507C=)
c.984C= (p.Pro328=)
c.573C= (p.Pro191=)
c.513C= (p.Pro171=)
c.1197C= (p.Pro399=)
c.1167C= (p.Pro389=)
c.1041C= (p.Pro347=)
c.*499C= (n.*499C=)
16g.27362816C>GCA494470146IL4Rc.1464C>G (p.Pro488=)
c.1419C>G (p.Pro473=)
c.230-1287C>G (n.230-1287C>G)
c.*1507C>G (n.*1507C>G)
c.984C>G (p.Pro328=)
c.573C>G (p.Pro191=)
c.513C>G (p.Pro171=)
c.1197C>G (p.Pro399=)
c.1167C>G (p.Pro389=)
c.1041C>G (p.Pro347=)
c.*499C>G (n.*499C>G)
16g.27362816C>TCA7974568IL4Rc.1464C>T (p.Pro488=)
c.1419C>T (p.Pro473=)
c.230-1287C>T (n.230-1287C>T)
c.*1507C>T (n.*1507C>T)
c.984C>T (p.Pro328=)
c.573C>T (p.Pro191=)
c.513C>T (p.Pro171=)
c.1197C>T (p.Pro399=)
c.1167C>T (p.Pro389=)
c.1041C>T (p.Pro347=)
c.*499C>T (n.*499C>T)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.27362817C>ACA395298949IL4Rc.1465C>A (p.Leu489Ile)
c.1420C>A (p.Leu474Ile)
c.230-1286C>A (n.230-1286C>A)
c.*1508C>A (n.*1508C>A)
c.985C>A (p.Leu329Ile)
c.574C>A (p.Leu192Ile)
c.514C>A (p.Leu172Ile)
c.1198C>A (p.Leu400Ile)
c.1168C>A (p.Leu390Ile)
c.1042C>A (p.Leu348Ile)
c.*500C>A (n.*500C>A)
16g.27362817C>GCA395298950IL4Rc.1465C>G (p.Leu489Val)
c.1420C>G (p.Leu474Val)
c.230-1286C>G (n.230-1286C>G)
c.*1508C>G (n.*1508C>G)
c.985C>G (p.Leu329Val)
c.574C>G (p.Leu192Val)
c.514C>G (p.Leu172Val)
c.1198C>G (p.Leu400Val)
c.1168C>G (p.Leu390Val)
c.1042C>G (p.Leu348Val)
c.*500C>G (n.*500C>G)
16g.27362817C>TCA395298951IL4Rc.1465C>T (p.Leu489Phe)
c.1420C>T (p.Leu474Phe)
c.230-1286C>T (n.230-1286C>T)
c.*1508C>T (n.*1508C>T)
c.985C>T (p.Leu329Phe)
c.574C>T (p.Leu192Phe)
c.514C>T (p.Leu172Phe)
c.1198C>T (p.Leu400Phe)
c.1168C>T (p.Leu390Phe)
c.1042C>T (p.Leu348Phe)
c.*500C>T (n.*500C>T)
16g.27362818T>ACA395298952IL4Rc.1466T>A (p.Leu489His)
c.1421T>A (p.Leu474His)
c.230-1285T>A (n.230-1285T>A)
c.*1509T>A (n.*1509T>A)
c.986T>A (p.Leu329His)
c.575T>A (p.Leu192His)
c.515T>A (p.Leu172His)
c.1199T>A (p.Leu400His)
c.1169T>A (p.Leu390His)
c.1043T>A (p.Leu348His)
c.*501T>A (n.*501T>A)
16g.27362818T>CCA395298954IL4Rc.1466T>C (p.Leu489Pro)
c.1421T>C (p.Leu474Pro)
c.230-1285T>C (n.230-1285T>C)
c.*1509T>C (n.*1509T>C)
c.986T>C (p.Leu329Pro)
c.575T>C (p.Leu192Pro)
c.515T>C (p.Leu172Pro)
c.1199T>C (p.Leu400Pro)
c.1169T>C (p.Leu390Pro)
c.1043T>C (p.Leu348Pro)
c.*501T>C (n.*501T>C)
16g.27362818T>GCA395298953IL4Rc.1466T>G (p.Leu489Arg)
c.1421T>G (p.Leu474Arg)
c.230-1285T>G (n.230-1285T>G)
c.*1509T>G (n.*1509T>G)
c.986T>G (p.Leu329Arg)
c.575T>G (p.Leu192Arg)
c.515T>G (p.Leu172Arg)
c.1199T>G (p.Leu400Arg)
c.1169T>G (p.Leu390Arg)
c.1043T>G (p.Leu348Arg)
c.*501T>G (n.*501T>G)
16g.27362819C>ACA494470147IL4Rc.1467C>A (p.Leu489=)
c.1422C>A (p.Leu474=)
c.230-1284C>A (n.230-1284C>A)
c.*1510C>A (n.*1510C>A)
c.987C>A (p.Leu329=)
c.576C>A (p.Leu192=)
c.516C>A (p.Leu172=)
c.1200C>A (p.Leu400=)
c.1170C>A (p.Leu390=)
c.1044C>A (p.Leu348=)
c.*502C>A (n.*502C>A)
16g.27362819C=CA2215169820IL4Rc.1467C= (p.Leu489=)
c.1422C= (p.Leu474=)
c.230-1284C= (n.230-1284C=)
c.*1510C= (n.*1510C=)
c.987C= (p.Leu329=)
c.576C= (p.Leu192=)
c.516C= (p.Leu172=)
c.1200C= (p.Leu400=)
c.1170C= (p.Leu390=)
c.1044C= (p.Leu348=)
c.*502C= (n.*502C=)
16g.27362819C>GCA494470148IL4Rc.1467C>G (p.Leu489=)
c.1422C>G (p.Leu474=)
c.230-1284C>G (n.230-1284C>G)
c.*1510C>G (n.*1510C>G)
c.987C>G (p.Leu329=)
c.576C>G (p.Leu192=)
c.516C>G (p.Leu172=)
c.1200C>G (p.Leu400=)
c.1170C>G (p.Leu390=)
c.1044C>G (p.Leu348=)
c.*502C>G (n.*502C>G)
gnomAD v4
16g.27362819C>TCA7974569IL4Rc.1467C>T (p.Leu489=)
c.1422C>T (p.Leu474=)
c.230-1284C>T (n.230-1284C>T)
c.*1510C>T (n.*1510C>T)
c.987C>T (p.Leu329=)
c.576C>T (p.Leu192=)
c.516C>T (p.Leu172=)
c.1200C>T (p.Leu400=)
c.1170C>T (p.Leu390=)
c.1044C>T (p.Leu348=)
c.*502C>T (n.*502C>T)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.27362820G>ACA7974570IL4Rc.1468G>A (p.Val490Ile)
c.1423G>A (p.Val475Ile)
c.230-1283G>A (n.230-1283G>A)
c.*1511G>A (n.*1511G>A)
c.988G>A (p.Val330Ile)
c.577G>A (p.Val193Ile)
c.517G>A (p.Val173Ile)
c.1201G>A (p.Val401Ile)
c.1171G>A (p.Val391Ile)
c.1045G>A (p.Val349Ile)
c.*503G>A (n.*503G>A)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
16g.27362820G>CCA395298955IL4Rc.1468G>C (p.Val490Leu)
c.1423G>C (p.Val475Leu)
c.230-1283G>C (n.230-1283G>C)
c.*1511G>C (n.*1511G>C)
c.988G>C (p.Val330Leu)
c.577G>C (p.Val193Leu)
c.517G>C (p.Val173Leu)
c.1201G>C (p.Val401Leu)
c.1171G>C (p.Val391Leu)
c.1045G>C (p.Val349Leu)
c.*503G>C (n.*503G>C)
gnomAD v4
16g.27362820G=CA2215169821IL4Rc.1468G= (p.Val490=)
c.1423G= (p.Val475=)
c.230-1283G= (n.230-1283G=)
c.*1511G= (n.*1511G=)
c.988G= (p.Val330=)
c.577G= (p.Val193=)
c.517G= (p.Val173=)
c.1201G= (p.Val401=)
c.1171G= (p.Val391=)
c.1045G= (p.Val349=)
c.*503G= (n.*503G=)
16g.27362820G>TCA395298956IL4Rc.1468G>T (p.Val490Phe)
c.1423G>T (p.Val475Phe)
c.230-1283G>T (n.230-1283G>T)
c.*1511G>T (n.*1511G>T)
c.988G>T (p.Val330Phe)
c.577G>T (p.Val193Phe)
c.517G>T (p.Val173Phe)
c.1201G>T (p.Val401Phe)
c.1171G>T (p.Val391Phe)
c.1045G>T (p.Val349Phe)
c.*503G>T (n.*503G>T)
16g.27362821T>ACA395298957IL4Rc.1469T>A (p.Val490Asp)
c.1424T>A (p.Val475Asp)
c.230-1282T>A (n.230-1282T>A)
c.*1512T>A (n.*1512T>A)
c.989T>A (p.Val330Asp)
c.578T>A (p.Val193Asp)
c.518T>A (p.Val173Asp)
c.1202T>A (p.Val401Asp)
c.1172T>A (p.Val391Asp)
c.1046T>A (p.Val349Asp)
c.*504T>A (n.*504T>A)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
16g.27362821T>CCA395298958IL4Rc.1469T>C (p.Val490Ala)
c.1424T>C (p.Val475Ala)
c.230-1282T>C (n.230-1282T>C)
c.*1512T>C (n.*1512T>C)
c.989T>C (p.Val330Ala)
c.578T>C (p.Val193Ala)
c.518T>C (p.Val173Ala)
c.1202T>C (p.Val401Ala)
c.1172T>C (p.Val391Ala)
c.1046T>C (p.Val349Ala)
c.*504T>C (n.*504T>C)
16g.27362821T>GCA395298959IL4Rc.1469T>G (p.Val490Gly)
c.1424T>G (p.Val475Gly)
c.230-1282T>G (n.230-1282T>G)
c.*1512T>G (n.*1512T>G)
c.989T>G (p.Val330Gly)
c.578T>G (p.Val193Gly)
c.518T>G (p.Val173Gly)
c.1202T>G (p.Val401Gly)
c.1172T>G (p.Val391Gly)
c.1046T>G (p.Val349Gly)
c.*504T>G (n.*504T>G)
16g.27362821T=CA2215169826IL4Rc.1469T= (p.Val490=)
c.1424T= (p.Val475=)
c.230-1282T= (n.230-1282T=)
c.*1512T= (n.*1512T=)
c.989T= (p.Val330=)
c.578T= (p.Val193=)
c.518T= (p.Val173=)
c.1202T= (p.Val401=)
c.1172T= (p.Val391=)
c.1046T= (p.Val349=)
c.*504T= (n.*504T=)
16g.27362822C>ACA494470151IL4Rc.1470C>A (p.Val490=)
c.1425C>A (p.Val475=)
c.230-1281C>A (n.230-1281C>A)
c.*1513C>A (n.*1513C>A)
c.990C>A (p.Val330=)
c.579C>A (p.Val193=)
c.519C>A (p.Val173=)
c.1203C>A (p.Val401=)
c.1173C>A (p.Val391=)
c.1047C>A (p.Val349=)
c.*505C>A (n.*505C>A)
16g.27362822C=CA2215169828IL4Rc.1470C= (p.Val490=)
c.1425C= (p.Val475=)
c.230-1281C= (n.230-1281C=)
c.*1513C= (n.*1513C=)
c.990C= (p.Val330=)
c.579C= (p.Val193=)
c.519C= (p.Val173=)
c.1203C= (p.Val401=)
c.1173C= (p.Val391=)
c.1047C= (p.Val349=)
c.*505C= (n.*505C=)
16g.27362822C>GCA494470150IL4Rc.1470C>G (p.Val490=)
c.1425C>G (p.Val475=)
c.230-1281C>G (n.230-1281C>G)
c.*1513C>G (n.*1513C>G)
c.990C>G (p.Val330=)
c.579C>G (p.Val193=)
c.519C>G (p.Val173=)
c.1203C>G (p.Val401=)
c.1173C>G (p.Val391=)
c.1047C>G (p.Val349=)
c.*505C>G (n.*505C>G)
16g.27362822C>TCA494470149IL4Rc.1470C>T (p.Val490=)
c.1425C>T (p.Val475=)
c.230-1281C>T (n.230-1281C>T)
c.*1513C>T (n.*1513C>T)
c.990C>T (p.Val330=)
c.579C>T (p.Val193=)
c.519C>T (p.Val173=)
c.1203C>T (p.Val401=)
c.1173C>T (p.Val391=)
c.1047C>T (p.Val349=)
c.*505C>T (n.*505C>T)
dbSNP gnomAD v4 COSMIC
16g.27362823A>CCA395298960IL4Rc.1471A>C (p.Ile491Leu)
c.1426A>C (p.Ile476Leu)
c.230-1280A>C (n.230-1280A>C)
c.*1514A>C (n.*1514A>C)
c.991A>C (p.Ile331Leu)
c.580A>C (p.Ile194Leu)
c.520A>C (p.Ile174Leu)
c.1204A>C (p.Ile402Leu)
c.1174A>C (p.Ile392Leu)
c.1048A>C (p.Ile350Leu)
c.*506A>C (n.*506A>C)
16g.27362823A>GCA395298961IL4Rc.1471A>G (p.Ile491Val)
c.1426A>G (p.Ile476Val)
c.230-1280A>G (n.230-1280A>G)
c.*1514A>G (n.*1514A>G)
c.991A>G (p.Ile331Val)
c.580A>G (p.Ile194Val)
c.520A>G (p.Ile174Val)
c.1204A>G (p.Ile402Val)
c.1174A>G (p.Ile392Val)
c.1048A>G (p.Ile350Val)
c.*506A>G (n.*506A>G)
16g.27362823A>TCA395298962IL4Rc.1471A>T (p.Ile491Phe)
c.1426A>T (p.Ile476Phe)
c.230-1280A>T (n.230-1280A>T)
c.*1514A>T (n.*1514A>T)
c.991A>T (p.Ile331Phe)
c.580A>T (p.Ile194Phe)
c.520A>T (p.Ile174Phe)
c.1204A>T (p.Ile402Phe)
c.1174A>T (p.Ile392Phe)
c.1048A>T (p.Ile350Phe)
c.*506A>T (n.*506A>T)
16g.27362824T>ACA395298964IL4Rc.1472T>A (p.Ile491Asn)
c.1427T>A (p.Ile476Asn)
c.230-1279T>A (n.230-1279T>A)
c.*1515T>A (n.*1515T>A)
c.992T>A (p.Ile331Asn)
c.581T>A (p.Ile194Asn)
c.521T>A (p.Ile174Asn)
c.1205T>A (p.Ile402Asn)
c.1175T>A (p.Ile392Asn)
c.1049T>A (p.Ile350Asn)
c.*507T>A (n.*507T>A)
16g.27362824T>CCA395298965IL4Rc.1472T>C (p.Ile491Thr)
c.1427T>C (p.Ile476Thr)
c.230-1279T>C (n.230-1279T>C)
c.*1515T>C (n.*1515T>C)
c.992T>C (p.Ile331Thr)
c.581T>C (p.Ile194Thr)
c.521T>C (p.Ile174Thr)
c.1205T>C (p.Ile402Thr)
c.1175T>C (p.Ile392Thr)
c.1049T>C (p.Ile350Thr)
c.*507T>C (n.*507T>C)
16g.27362824T>GCA395298963IL4Rc.1472T>G (p.Ile491Ser)
c.1427T>G (p.Ile476Ser)
c.230-1279T>G (n.230-1279T>G)
c.*1515T>G (n.*1515T>G)
c.992T>G (p.Ile331Ser)
c.581T>G (p.Ile194Ser)
c.521T>G (p.Ile174Ser)
c.1205T>G (p.Ile402Ser)
c.1175T>G (p.Ile392Ser)
c.1049T>G (p.Ile350Ser)
c.*507T>G (n.*507T>G)
16g.27362825C>ACA494470152IL4Rc.1473C>A (p.Ile491=)
c.1428C>A (p.Ile476=)
c.230-1278C>A (n.230-1278C>A)
c.*1516C>A (n.*1516C>A)
c.993C>A (p.Ile331=)
c.582C>A (p.Ile194=)
c.522C>A (p.Ile174=)
c.1206C>A (p.Ile402=)
c.1176C>A (p.Ile392=)
c.1050C>A (p.Ile350=)
c.*508C>A (n.*508C>A)
16g.27362825C=CA2215169829IL4Rc.1473C= (p.Ile491=)
c.1428C= (p.Ile476=)
c.230-1278C= (n.230-1278C=)
c.*1516C= (n.*1516C=)
c.993C= (p.Ile331=)
c.582C= (p.Ile194=)
c.522C= (p.Ile174=)
c.1206C= (p.Ile402=)
c.1176C= (p.Ile392=)
c.1050C= (p.Ile350=)
c.*508C= (n.*508C=)
16g.27362825C>GCA395298966IL4Rc.1473C>G (p.Ile491Met)
c.1428C>G (p.Ile476Met)
c.230-1278C>G (n.230-1278C>G)
c.*1516C>G (n.*1516C>G)
c.993C>G (p.Ile331Met)
c.582C>G (p.Ile194Met)
c.522C>G (p.Ile174Met)
c.1206C>G (p.Ile402Met)
c.1176C>G (p.Ile392Met)
c.1050C>G (p.Ile350Met)
c.*508C>G (n.*508C>G)
16g.27362825C>TCA7974571IL4Rc.1473C>T (p.Ile491=)
c.1428C>T (p.Ile476=)
c.230-1278C>T (n.230-1278C>T)
c.*1516C>T (n.*1516C>T)
c.993C>T (p.Ile331=)
c.582C>T (p.Ile194=)
c.522C>T (p.Ile174=)
c.1206C>T (p.Ile402=)
c.1176C>T (p.Ile392=)
c.1050C>T (p.Ile350=)
c.*508C>T (n.*508C>T)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.27362825_27362826delinsCGCA2215169831IL4Rc.1473_1474delinsCG (p.Ile491=)
c.1428_1429delinsCG (p.Ile476=)
c.230-1278_230-1277delinsCG (n.230-1278_230-1277delinsCG)
c.*1516_*1517delinsCG (n.*1516_*1517delinsCG)
c.993_994delinsCG (p.Ile331=)
c.582_583delinsCG (p.Ile194=)
c.522_523delinsCG (p.Ile174=)
c.1206_1207delinsCG (p.Ile402=)
c.1176_1177delinsCG (p.Ile392=)
c.1050_1051delinsCG (p.Ile350=)
c.*508_*509delinsCG (n.*508_*509delinsCG)
16g.27362825_27362827delinsCGCCA2215169830IL4Rc.1473_1475delinsCGC (p.Ile491=)
c.1428_1430delinsCGC (p.Ile476=)
c.230-1278_230-1276delinsCGC (n.230-1278_230-1276delinsCGC)
c.*1516_*1518delinsCGC (n.*1516_*1518delinsCGC)
c.993_995delinsCGC (p.Ile331=)
c.582_584delinsCGC (p.Ile194=)
c.522_524delinsCGC (p.Ile174=)
c.1206_1208delinsCGC (p.Ile402=)
c.1176_1178delinsCGC (p.Ile392=)
c.1050_1052delinsCGC (p.Ile350=)
c.*508_*510delinsCGC (n.*508_*510delinsCGC)
16g.27362826delCA919683178IL4Rc.1474del (p.Ala492GlnfsTer13)
c.1429del (p.Ala477GlnfsTer13)
c.230-1277del (n.230-1277del)
c.*1517del (n.*1517del)
c.994del (p.Ala332GlnfsTer13)
c.583del (p.Ala195GlnfsTer13)
c.523del (p.Ala175GlnfsTer13)
c.1207del (p.Ala403GlnfsTer13)
c.1177del (p.Ala393GlnfsTer13)
c.1051del (p.Ala351GlnfsTer13)
c.*509del (n.*509del)
dbSNP
16g.27362826G>ACA7974572IL4Rc.1474G>A (p.Ala492Thr)
c.1429G>A (p.Ala477Thr)
c.230-1277G>A (n.230-1277G>A)
c.*1517G>A (n.*1517G>A)
c.994G>A (p.Ala332Thr)
c.583G>A (p.Ala195Thr)
c.523G>A (p.Ala175Thr)
c.1207G>A (p.Ala403Thr)
c.1177G>A (p.Ala393Thr)
c.1051G>A (p.Ala351Thr)
c.*509G>A (n.*509G>A)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.27362826G>CCA395298967IL4Rc.1474G>C (p.Ala492Pro)
c.1429G>C (p.Ala477Pro)
c.230-1277G>C (n.230-1277G>C)
c.*1517G>C (n.*1517G>C)
c.994G>C (p.Ala332Pro)
c.583G>C (p.Ala195Pro)
c.523G>C (p.Ala175Pro)
c.1207G>C (p.Ala403Pro)
c.1177G>C (p.Ala393Pro)
c.1051G>C (p.Ala351Pro)
c.*509G>C (n.*509G>C)
16g.27362826G=CA2215169840IL4Rc.1474G= (p.Ala492=)
c.1429G= (p.Ala477=)
c.230-1277G= (n.230-1277G=)
c.*1517G= (n.*1517G=)
c.994G= (p.Ala332=)
c.583G= (p.Ala195=)
c.523G= (p.Ala175=)
c.1207G= (p.Ala403=)
c.1177G= (p.Ala393=)
c.1051G= (p.Ala351=)
c.*509G= (n.*509G=)
16g.27362826G>TCA395298968IL4Rc.1474G>T (p.Ala492Ser)
c.1429G>T (p.Ala477Ser)
c.230-1277G>T (n.230-1277G>T)
c.*1517G>T (n.*1517G>T)
c.994G>T (p.Ala332Ser)
c.583G>T (p.Ala195Ser)
c.523G>T (p.Ala175Ser)
c.1207G>T (p.Ala403Ser)
c.1177G>T (p.Ala393Ser)
c.1051G>T (p.Ala351Ser)
c.*509G>T (n.*509G>T)
dbSNP gnomAD v2 gnomAD v4
16g.27362826_27362827delinsACA919683179IL4Rc.1474_1475delinsA (p.Ala492LysfsTer13)
c.1429_1430delinsA (p.Ala477LysfsTer13)
c.230-1277_230-1276delinsA (n.230-1277_230-1276delinsA)
c.*1517_*1518delinsA (n.*1517_*1518delinsA)
c.994_995delinsA (p.Ala332LysfsTer13)
c.583_584delinsA (p.Ala195LysfsTer13)
c.523_524delinsA (p.Ala175LysfsTer13)
c.1207_1208delinsA (p.Ala403LysfsTer13)
c.1177_1178delinsA (p.Ala393LysfsTer13)
c.1051_1052delinsA (p.Ala351LysfsTer13)
c.*509_*510delinsA (n.*509_*510delinsA)
dbSNP
16g.27362826_27362827delinsTCA919683180IL4Rc.1474_1475delinsT (p.Ala492Ter)
c.1429_1430delinsT (p.Ala477Ter)
c.230-1277_230-1276delinsT (n.230-1277_230-1276delinsT)
c.*1517_*1518delinsT (n.*1517_*1518delinsT)
c.994_995delinsT (p.Ala332Ter)
c.583_584delinsT (p.Ala195Ter)
c.523_524delinsT (p.Ala175Ter)
c.1207_1208delinsT (p.Ala403Ter)
c.1177_1178delinsT (p.Ala393Ter)
c.1051_1052delinsT (p.Ala351Ter)
c.*509_*510delinsT (n.*509_*510delinsT)
dbSNP
16g.27362826_27362827delinsGCCA2215169836IL4Rc.1474_1475delinsGC (p.Ala492=)
c.1429_1430delinsGC (p.Ala477=)
c.230-1277_230-1276delinsGC (n.230-1277_230-1276delinsGC)
c.*1517_*1518delinsGC (n.*1517_*1518delinsGC)
c.994_995delinsGC (p.Ala332=)
c.583_584delinsGC (p.Ala195=)
c.523_524delinsGC (p.Ala175=)
c.1207_1208delinsGC (p.Ala403=)
c.1177_1178delinsGC (p.Ala393=)
c.1051_1052delinsGC (p.Ala351=)
c.*509_*510delinsGC (n.*509_*510delinsGC)
16g.27362827delCA919683181IL4Rc.1475del (p.Ala492GlufsTer13)
c.1430del (p.Ala477GlufsTer13)
c.230-1276del (n.230-1276del)
c.*1518del (n.*1518del)
c.995del (p.Ala332GlufsTer13)
c.584del (p.Ala195GlufsTer13)
c.524del (p.Ala175GlufsTer13)
c.1208del (p.Ala403GlufsTer13)
c.1178del (p.Ala393GlufsTer13)
c.1052del (p.Ala351GlufsTer13)
c.*510del (n.*510del)
dbSNP
16g.27362827C>ACA395298969IL4Rc.1475C>A (p.Ala492Glu)
c.1430C>A (p.Ala477Glu)
c.230-1276C>A (n.230-1276C>A)
c.*1518C>A (n.*1518C>A)
c.995C>A (p.Ala332Glu)
c.584C>A (p.Ala195Glu)
c.524C>A (p.Ala175Glu)
c.1208C>A (p.Ala403Glu)
c.1178C>A (p.Ala393Glu)
c.1052C>A (p.Ala351Glu)
c.*510C>A (n.*510C>A)
16g.27362827C=CA2215169847IL4Rc.1475C= (p.Ala492=)
c.1430C= (p.Ala477=)
c.230-1276C= (n.230-1276C=)
c.*1518C= (n.*1518C=)
c.995C= (p.Ala332=)
c.584C= (p.Ala195=)
c.524C= (p.Ala175=)
c.1208C= (p.Ala403=)
c.1178C= (p.Ala393=)
c.1052C= (p.Ala351=)
c.*510C= (n.*510C=)
16g.27362827C>GCA395298970IL4Rc.1475C>G (p.Ala492Gly)
c.1430C>G (p.Ala477Gly)
c.230-1276C>G (n.230-1276C>G)
c.*1518C>G (n.*1518C>G)
c.995C>G (p.Ala332Gly)
c.584C>G (p.Ala195Gly)
c.524C>G (p.Ala175Gly)
c.1208C>G (p.Ala403Gly)
c.1178C>G (p.Ala393Gly)
c.1052C>G (p.Ala351Gly)
c.*510C>G (n.*510C>G)
16g.27362827C>TCA7974573IL4Rc.1475C>T (p.Ala492Val)
c.1430C>T (p.Ala477Val)
c.230-1276C>T (n.230-1276C>T)
c.*1518C>T (n.*1518C>T)
c.995C>T (p.Ala332Val)
c.584C>T (p.Ala195Val)
c.524C>T (p.Ala175Val)
c.1208C>T (p.Ala403Val)
c.1178C>T (p.Ala393Val)
c.1052C>T (p.Ala351Val)
c.*510C>T (n.*510C>T)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.27362828A=CA2215169850IL4Rc.1476A= (p.Ala492=)
c.1431A= (p.Ala477=)
c.230-1275A= (n.230-1275A=)
c.*1519A= (n.*1519A=)
c.996A= (p.Ala332=)
c.585A= (p.Ala195=)
c.525A= (p.Ala175=)
c.1209A= (p.Ala403=)
c.1179A= (p.Ala393=)
c.1053A= (p.Ala351=)
c.*511A= (n.*511A=)
16g.27362828A>CCA7974574IL4Rc.1476A>C (p.Ala492=)
c.1431A>C (p.Ala477=)
c.230-1275A>C (n.230-1275A>C)
c.*1519A>C (n.*1519A>C)
c.996A>C (p.Ala332=)
c.585A>C (p.Ala195=)
c.525A>C (p.Ala175=)
c.1209A>C (p.Ala403=)
c.1179A>C (p.Ala393=)
c.1053A>C (p.Ala351=)
c.*511A>C (n.*511A>C)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.27362828A>GCA7974575IL4Rc.1476A>G (p.Ala492=)
c.1431A>G (p.Ala477=)
c.230-1275A>G (n.230-1275A>G)
c.*1519A>G (n.*1519A>G)
c.996A>G (p.Ala332=)
c.585A>G (p.Ala195=)
c.525A>G (p.Ala175=)
c.1209A>G (p.Ala403=)
c.1179A>G (p.Ala393=)
c.1053A>G (p.Ala351=)
c.*511A>G (n.*511A>G)
dbSNP ExAC gnomAD v2 gnomAD v4
16g.27362828A>TCA494470153IL4Rc.1476A>T (p.Ala492=)
c.1431A>T (p.Ala477=)
c.230-1275A>T (n.230-1275A>T)
c.*1519A>T (n.*1519A>T)
c.996A>T (p.Ala332=)
c.585A>T (p.Ala195=)
c.525A>T (p.Ala175=)
c.1209A>T (p.Ala403=)
c.1179A>T (p.Ala393=)
c.1053A>T (p.Ala351=)
c.*511A>T (n.*511A>T)
COSMIC
16g.27362829G>ACA395298971IL4Rc.1477G>A (p.Gly493Ser)
c.1432G>A (p.Gly478Ser)
c.230-1274G>A (n.230-1274G>A)
c.*1520G>A (n.*1520G>A)
c.997G>A (p.Gly333Ser)
c.586G>A (p.Gly196Ser)
c.526G>A (p.Gly176Ser)
c.1210G>A (p.Gly404Ser)
c.1180G>A (p.Gly394Ser)
c.1054G>A (p.Gly352Ser)
c.*512G>A (n.*512G>A)
16g.27362829G>CCA395298972IL4Rc.1477G>C (p.Gly493Arg)
c.1432G>C (p.Gly478Arg)
c.230-1274G>C (n.230-1274G>C)
c.*1520G>C (n.*1520G>C)
c.997G>C (p.Gly333Arg)
c.586G>C (p.Gly196Arg)
c.526G>C (p.Gly176Arg)
c.1210G>C (p.Gly404Arg)
c.1180G>C (p.Gly394Arg)
c.1054G>C (p.Gly352Arg)
c.*512G>C (n.*512G>C)
16g.27362829G>TCA395298973IL4Rc.1477G>T (p.Gly493Cys)
c.1432G>T (p.Gly478Cys)
c.230-1274G>T (n.230-1274G>T)
c.*1520G>T (n.*1520G>T)
c.997G>T (p.Gly333Cys)
c.586G>T (p.Gly196Cys)
c.526G>T (p.Gly176Cys)
c.1210G>T (p.Gly404Cys)
c.1180G>T (p.Gly394Cys)
c.1054G>T (p.Gly352Cys)
c.*512G>T (n.*512G>T)
16g.27362830G>ACA395298976IL4Rc.1478G>A (p.Gly493Asp)
c.1433G>A (p.Gly478Asp)
c.230-1273G>A (n.230-1273G>A)
c.*1521G>A (n.*1521G>A)
c.998G>A (p.Gly333Asp)
c.587G>A (p.Gly196Asp)
c.527G>A (p.Gly176Asp)
c.1211G>A (p.Gly404Asp)
c.1181G>A (p.Gly394Asp)
c.1055G>A (p.Gly352Asp)
c.*513G>A (n.*513G>A)
gnomAD v4
16g.27362830G>CCA395298975IL4Rc.1478G>C (p.Gly493Ala)
c.1433G>C (p.Gly478Ala)
c.230-1273G>C (n.230-1273G>C)
c.*1521G>C (n.*1521G>C)
c.998G>C (p.Gly333Ala)
c.587G>C (p.Gly196Ala)
c.527G>C (p.Gly176Ala)
c.1211G>C (p.Gly404Ala)
c.1181G>C (p.Gly394Ala)
c.1055G>C (p.Gly352Ala)
c.*513G>C (n.*513G>C)
16g.27362830G=CA2215169851IL4Rc.1478G= (p.Gly493=)
c.1433G= (p.Gly478=)
c.230-1273G= (n.230-1273G=)
c.*1521G= (n.*1521G=)
c.998G= (p.Gly333=)
c.587G= (p.Gly196=)
c.527G= (p.Gly176=)
c.1211G= (p.Gly404=)
c.1181G= (p.Gly394=)
c.1055G= (p.Gly352=)
c.*513G= (n.*513G=)
16g.27362830G>TCA395298974IL4Rc.1478G>T (p.Gly493Val)
c.1433G>T (p.Gly478Val)
c.230-1273G>T (n.230-1273G>T)
c.*1521G>T (n.*1521G>T)
c.998G>T (p.Gly333Val)
c.587G>T (p.Gly196Val)
c.527G>T (p.Gly176Val)
c.1211G>T (p.Gly404Val)
c.1181G>T (p.Gly394Val)
c.1055G>T (p.Gly352Val)
c.*513G>T (n.*513G>T)
dbSNP
16g.27362831C>ACA494470154IL4Rc.1479C>A (p.Gly493=)
c.1434C>A (p.Gly478=)
c.230-1272C>A (n.230-1272C>A)
c.*1522C>A (n.*1522C>A)
c.999C>A (p.Gly333=)
c.588C>A (p.Gly196=)
c.528C>A (p.Gly176=)
c.1212C>A (p.Gly404=)
c.1182C>A (p.Gly394=)
c.1056C>A (p.Gly352=)
c.*514C>A (n.*514C>A)
16g.27362831C=CA2215169854IL4Rc.1479C= (p.Gly493=)
c.1434C= (p.Gly478=)
c.230-1272C= (n.230-1272C=)
c.*1522C= (n.*1522C=)
c.999C= (p.Gly333=)
c.588C= (p.Gly196=)
c.528C= (p.Gly176=)
c.1212C= (p.Gly404=)
c.1182C= (p.Gly394=)
c.1056C= (p.Gly352=)
c.*514C= (n.*514C=)
16g.27362831C>GCA494470155IL4Rc.1479C>G (p.Gly493=)
c.1434C>G (p.Gly478=)
c.230-1272C>G (n.230-1272C>G)
c.*1522C>G (n.*1522C>G)
c.999C>G (p.Gly333=)
c.588C>G (p.Gly196=)
c.528C>G (p.Gly176=)
c.1212C>G (p.Gly404=)
c.1182C>G (p.Gly394=)
c.1056C>G (p.Gly352=)
c.*514C>G (n.*514C>G)
dbSNP gnomAD v2 gnomAD v4
16g.27362831C>TCA494470156IL4Rc.1479C>T (p.Gly493=)
c.1434C>T (p.Gly478=)
c.230-1272C>T (n.230-1272C>T)
c.*1522C>T (n.*1522C>T)
c.999C>T (p.Gly333=)
c.588C>T (p.Gly196=)
c.528C>T (p.Gly176=)
c.1212C>T (p.Gly404=)
c.1182C>T (p.Gly394=)
c.1056C>T (p.Gly352=)
c.*514C>T (n.*514C>T)
16g.27362832A>CCA395298977IL4Rc.1480A>C (p.Asn494His)
c.1435A>C (p.Asn479His)
c.230-1271A>C (n.230-1271A>C)
c.*1523A>C (n.*1523A>C)
c.1000A>C (p.Asn334His)
c.589A>C (p.Asn197His)
c.529A>C (p.Asn177His)
c.1213A>C (p.Asn405His)
c.1183A>C (p.Asn395His)
c.1057A>C (p.Asn353His)
c.*515A>C (n.*515A>C)
16g.27362832A>GCA395298978IL4Rc.1480A>G (p.Asn494Asp)
c.1435A>G (p.Asn479Asp)
c.230-1271A>G (n.230-1271A>G)
c.*1523A>G (n.*1523A>G)
c.1000A>G (p.Asn334Asp)
c.589A>G (p.Asn197Asp)
c.529A>G (p.Asn177Asp)
c.1213A>G (p.Asn405Asp)
c.1183A>G (p.Asn395Asp)
c.1057A>G (p.Asn353Asp)
c.*515A>G (n.*515A>G)
16g.27362832A>TCA395298979IL4Rc.1480A>T (p.Asn494Tyr)
c.1435A>T (p.Asn479Tyr)
c.230-1271A>T (n.230-1271A>T)
c.*1523A>T (n.*1523A>T)
c.1000A>T (p.Asn334Tyr)
c.589A>T (p.Asn197Tyr)
c.529A>T (p.Asn177Tyr)
c.1213A>T (p.Asn405Tyr)
c.1183A>T (p.Asn395Tyr)
c.1057A>T (p.Asn353Tyr)
c.*515A>T (n.*515A>T)
16g.27362833A>CCA395298980IL4Rc.1481A>C (p.Asn494Thr)
c.1436A>C (p.Asn479Thr)
c.230-1270A>C (n.230-1270A>C)
c.*1524A>C (n.*1524A>C)
c.1001A>C (p.Asn334Thr)
c.590A>C (p.Asn197Thr)
c.530A>C (p.Asn177Thr)
c.1214A>C (p.Asn405Thr)
c.1184A>C (p.Asn395Thr)
c.1058A>C (p.Asn353Thr)
c.*516A>C (n.*516A>C)
16g.27362833A>GCA395298981IL4Rc.1481A>G (p.Asn494Ser)
c.1436A>G (p.Asn479Ser)
c.230-1270A>G (n.230-1270A>G)
c.*1524A>G (n.*1524A>G)
c.1001A>G (p.Asn334Ser)
c.590A>G (p.Asn197Ser)
c.530A>G (p.Asn177Ser)
c.1214A>G (p.Asn405Ser)
c.1184A>G (p.Asn395Ser)
c.1058A>G (p.Asn353Ser)
c.*516A>G (n.*516A>G)
16g.27362833A>TCA395298982IL4Rc.1481A>T (p.Asn494Ile)
c.1436A>T (p.Asn479Ile)
c.230-1270A>T (n.230-1270A>T)
c.*1524A>T (n.*1524A>T)
c.1001A>T (p.Asn334Ile)
c.590A>T (p.Asn197Ile)
c.530A>T (p.Asn177Ile)
c.1214A>T (p.Asn405Ile)
c.1184A>T (p.Asn395Ile)
c.1058A>T (p.Asn353Ile)
c.*516A>T (n.*516A>T)
gnomAD v4
16g.27362834C>ACA395298983IL4Rc.1482C>A (p.Asn494Lys)
c.1437C>A (p.Asn479Lys)
c.230-1269C>A (n.230-1269C>A)
c.*1525C>A (n.*1525C>A)
c.1002C>A (p.Asn334Lys)
c.591C>A (p.Asn197Lys)
c.531C>A (p.Asn177Lys)
c.1215C>A (p.Asn405Lys)
c.1185C>A (p.Asn395Lys)
c.1059C>A (p.Asn353Lys)
c.*517C>A (n.*517C>A)
16g.27362834C>GCA395298984IL4Rc.1482C>G (p.Asn494Lys)
c.1437C>G (p.Asn479Lys)
c.230-1269C>G (n.230-1269C>G)
c.*1525C>G (n.*1525C>G)
c.1002C>G (p.Asn334Lys)
c.591C>G (p.Asn197Lys)
c.531C>G (p.Asn177Lys)
c.1215C>G (p.Asn405Lys)
c.1185C>G (p.Asn395Lys)
c.1059C>G (p.Asn353Lys)
c.*517C>G (n.*517C>G)
16g.27362834C>TCA494470157IL4Rc.1482C>T (p.Asn494=)
c.1437C>T (p.Asn479=)
c.230-1269C>T (n.230-1269C>T)
c.*1525C>T (n.*1525C>T)
c.1002C>T (p.Asn334=)
c.591C>T (p.Asn197=)
c.531C>T (p.Asn177=)
c.1215C>T (p.Asn405=)
c.1185C>T (p.Asn395=)
c.1059C>T (p.Asn353=)
c.*517C>T (n.*517C>T)
16g.27362835C>ACA395298985IL4Rc.1483C>A (p.Pro495Thr)
c.1438C>A (p.Pro480Thr)
c.230-1268C>A (n.230-1268C>A)
c.*1526C>A (n.*1526C>A)
c.1003C>A (p.Pro335Thr)
c.592C>A (p.Pro198Thr)
c.532C>A (p.Pro178Thr)
c.1216C>A (p.Pro406Thr)
c.1186C>A (p.Pro396Thr)
c.1060C>A (p.Pro354Thr)
c.*518C>A (n.*518C>A)
gnomAD v4
16g.27362835C>GCA395298986IL4Rc.1483C>G (p.Pro495Ala)
c.1438C>G (p.Pro480Ala)
c.230-1268C>G (n.230-1268C>G)
c.*1526C>G (n.*1526C>G)
c.1003C>G (p.Pro335Ala)
c.592C>G (p.Pro198Ala)
c.532C>G (p.Pro178Ala)
c.1216C>G (p.Pro406Ala)
c.1186C>G (p.Pro396Ala)
c.1060C>G (p.Pro354Ala)
c.*518C>G (n.*518C>G)
16g.27362835C>TCA395298987IL4Rc.1483C>T (p.Pro495Ser)
c.1438C>T (p.Pro480Ser)
c.230-1268C>T (n.230-1268C>T)
c.*1526C>T (n.*1526C>T)
c.1003C>T (p.Pro335Ser)
c.592C>T (p.Pro198Ser)
c.532C>T (p.Pro178Ser)
c.1216C>T (p.Pro406Ser)
c.1186C>T (p.Pro396Ser)
c.1060C>T (p.Pro354Ser)
c.*518C>T (n.*518C>T)
gnomAD v4
16g.27362836C>ACA395298988IL4Rc.1484C>A (p.Pro495His)
c.1439C>A (p.Pro480His)
c.230-1267C>A (n.230-1267C>A)
c.*1527C>A (n.*1527C>A)
c.1004C>A (p.Pro335His)
c.593C>A (p.Pro198His)
c.533C>A (p.Pro178His)
c.1217C>A (p.Pro406His)
c.1187C>A (p.Pro396His)
c.1061C>A (p.Pro354His)
c.*519C>A (n.*519C>A)
16g.27362836C>GCA395298989IL4Rc.1484C>G (p.Pro495Arg)
c.1439C>G (p.Pro480Arg)
c.230-1267C>G (n.230-1267C>G)
c.*1527C>G (n.*1527C>G)
c.1004C>G (p.Pro335Arg)
c.593C>G (p.Pro198Arg)
c.533C>G (p.Pro178Arg)
c.1217C>G (p.Pro406Arg)
c.1187C>G (p.Pro396Arg)
c.1061C>G (p.Pro354Arg)
c.*519C>G (n.*519C>G)
16g.27362836C>TCA395298990IL4Rc.1484C>T (p.Pro495Leu)
c.1439C>T (p.Pro480Leu)
c.230-1267C>T (n.230-1267C>T)
c.*1527C>T (n.*1527C>T)
c.1004C>T (p.Pro335Leu)
c.593C>T (p.Pro198Leu)
c.533C>T (p.Pro178Leu)
c.1217C>T (p.Pro406Leu)
c.1187C>T (p.Pro396Leu)
c.1061C>T (p.Pro354Leu)
c.*519C>T (n.*519C>T)

Number of alleles fetched